Full data view for gene PHOX2B

Information The variants shown are described using the NM_003924.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
?/? - c.-7del r.(=) p.(=) Parent #2 g.41750634del - PHOX2B_000006 rs1180196980 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kalabaka Trikala Greek no - 1 Despoina Kalfakakou
?/? - c.69C>T r.(=) p.(=) Parent #2 g.41750559G>A - PHOX2B_000005 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lamia - Greek no - 1 Despoina Kalfakakou
?/? - c.242-52G>T r.(=) p.(=) Parent #2 g.41749605C>A - PHOX2B_000027 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Neo Monastiri, Domokos - Greek no - 1 Despoina Kalfakakou
?/? - c.242-52G>T r.(=) p.(=) Parent #2 g.41749605C>A - PHOX2B_000027 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama - Greek no - 1 Despoina Kalfakakou
?/? - c.242-45T>G r.(=) p.(=) Parent #2 g.41749598A>C - PHOX2B_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio Athens Greek no - 1 Despoina Kalfakakou
?/? - c.344G>A r.(?) p.(Arg115Lys) Parent #2 g.41749451C>T - PHOX2B_000013 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lappa, Achaia Neapoli, Elis Greek no - 1 Despoina Kalfakakou
?/? - c.429+4C>T r.spl? p.? Parent #2 g.41749362G>A - PHOX2B_000022 rs1173248729 - Germline - - - - DNA SEQ-NG-I 1 - - F Zakynthos - Greek no - 1 Despoina Kalfakakou
?/? - c.429+38T>C r.(=) p.(=) Parent #2 g.41749328A>G - PHOX2B_000011 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Zante - Greek no - 1 Despoina Kalfakakou
?/? - c.429+38T>C r.(=) p.(=) Parent #2 g.41749328A>G - PHOX2B_000011 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Eastern Rumelia - Greek no - 1 Despoina Kalfakakou
?/? - c.679G>T r.(?) p.(Ala227Ser) Parent #2 g.41748090C>A - PHOX2B_000003 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Milos Greek no - 2 Despoina Kalfakakou
?/? - c.680C>T r.(?) p.(Ala227Val) Parent #2 g.41748089G>A - PHOX2B_000002 rs779913205 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Milos Greek no - 2 Despoina Kalfakakou
-?/-? - c.726A>G r.(=) p.(=) Parent #2 g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - DNA SEQ-NG-I 1 BrCa, LPSRCM - F Phocis - Greek no - 1 Despoina Kalfakakou
-?/-? - c.726A>G r.(=) p.(=) Parent #2 g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lesvos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.726A>G r.(=) p.(=) Parent #2 g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.726A>G r.(=) p.(=) Parent #2 g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
-?/-? - c.726A>G r.(=) p.(=) Parent #2 g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kalabaka Trikala Greek no - 1 Despoina Kalfakakou
-?/-? - c.726A>G r.(=) p.(=) Parent #2 g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
-?/-? - c.726A>G r.(=) p.(=) Parent #2 g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kyriaki, Boeotia Chostia, Boeotia Greek no - 1 Despoina Kalfakakou
-?/-? - c.726A>G r.(=) p.(=) Parent #2 g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Giannitsa, Pella - Greek no - 1 Despoina Kalfakakou
-?/-? - c.726A>G r.(=) p.(=) Parent #2 g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.726A>G r.(=) p.(=) Parent #2 g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - DNA SEQ-NG-I 1 CMM3 - M Albania - Albanian no - 1 Despoina Kalfakakou
-?/-? - c.726A>G r.(=) p.(=) Parent #2 g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Cyclades Greek no - 1 Despoina Kalfakakou
-?/-? - c.726A>G r.(=) p.(=) Parent #2 g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
-?/-? - c.726A>G r.(=) p.(=) Parent #2 g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mavrothalassa, Serres - Greek no - 1 Despoina Kalfakakou
-?/-? - c.726A>G r.(=) p.(=) Parent #2 g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.729_749del r.(?) p.(Ala254_Ala260del) Parent #2 g.41748020_41748040del - PHOX2B_000016 rs772448418 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kastri, Thesprotia - Greek no - 1 Despoina Kalfakakou
?/? - c.732G>C r.(=) p.(=) Parent #2 g.41748037C>G - PHOX2B_000024 rs1185437293 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Karditsa - Greek no - 1 Despoina Kalfakakou
-?/-? - c.738_776del r.(?) p.(Ala248_Ala260del) Parent #2 g.41747993_41748031del - PHOX2B_000008 rs757020181 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.738_776del r.(?) p.(Ala248_Ala260del) Parent #2 g.41747993_41748031del - PHOX2B_000008 rs757020181 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Gytheion, Laconia Tripoli, Arcadia Greek no - 1 Despoina Kalfakakou
-?/-? - c.738_776del r.(?) p.(Ala248_Ala260del) Parent #2 g.41747993_41748031del - PHOX2B_000008 rs757020181 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.741C>A r.(=) p.(=) Parent #2 g.41748028G>T - PHOX2B_000021 rs764470906 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Dara, Arcadia Ithaca Greek no - 1 Despoina Kalfakakou
-?/-? - c.741_755del r.(?) p.(Ala256_Ala260del) Parent #2 g.41748014_41748028del - PHOX2B_000017 rs775006915 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kithnos &Andros Andros Greek no - 1 Despoina Kalfakakou
-?/-? - c.741_755del r.(?) p.(Ala256_Ala260del) Parent #2 g.41748014_41748028del - PHOX2B_000017 rs775006915 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Stadio, Arcadia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.741_758del r.(?) p.(Ala255_Ala260del) Parent #2 g.41748011_41748028del - PHOX2B_000020 rs771383153 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Evia Greek no - 1 Despoina Kalfakakou
-/- - c.741_761del r.(?) p.(Ala254_Ala260del) Parent #2 g.41748008_41748028del - PHOX2B_000015 rs749694204 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Evia Greek no - 1 Despoina Kalfakakou
-/- - c.741_761del r.(?) p.(Ala254_Ala260del) Parent #2 g.41748008_41748028del - PHOX2B_000015 rs749694204 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Elis Metochi, Achaea Greek no - 1 Despoina Kalfakakou
-?/-? - c.750G>A r.(=) p.(=) Parent #2 g.41748019C>T - PHOX2B_000018 rs17882335 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Akrata, Achaea - Greek no - 1 Despoina Kalfakakou
-?/-? - c.750G>A r.(=) p.(=) Parent #2 g.41748019C>T - PHOX2B_000018 rs17882335 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Gjirokaster, Albania - Greek no - 1 Despoina Kalfakakou
-?/-? - c.756_776del r.(?) p.(Ala254_Ala260del) Parent #2 g.41747993_41748013del - PHOX2B_000012 rs17879189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Milos Lavrio Greek no - 1 Despoina Kalfakakou
-?/-? - c.756_776del r.(?) p.(Ala254_Ala260del) Parent #2 g.41747993_41748013del - PHOX2B_000012 rs17879189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Frousouna, Argolis Artemisio, Arcadia Greek no - 1 Despoina Kalfakakou
-?/-? - c.756_776del r.(?) p.(Ala254_Ala260del) Parent #2 g.41747993_41748013del - PHOX2B_000012 rs17879189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Akrata, Achaea - Greek no - 1 Despoina Kalfakakou
-?/-? - c.756_776del r.(?) p.(Ala254_Ala260del) Parent #2 g.41747993_41748013del - PHOX2B_000012 rs17879189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Kavala Greek no - 1 Despoina Kalfakakou
-?/-? - c.756_776del r.(?) p.(Ala254_Ala260del) Parent #2 g.41747993_41748013del - PHOX2B_000012 rs17879189 - Germline - - - - DNA SEQ-NG-I 1 BKT, CS, PPB - F Lamia Thessaloniki Greek no - 1 Despoina Kalfakakou
-?/-? - c.759G>A r.(=) p.(=) Parent #2 g.41748010C>T - PHOX2B_000028 rs1018522821 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Agios Georgios Nileias, Pelion Katochori, Pelion Greek no - 1 Despoina Kalfakakou
-/- - c.762A>G r.(=) p.(=) Parent #2 g.41748007T>C - PHOX2B_000007 rs17884724 - Germline - - - - DNA SEQ-NG-I 1 Polyposis - F Euboea - Greek no - 2 Despoina Kalfakakou
-/- - c.762A>G r.(=) p.(=) Parent #2 g.41748007T>C - PHOX2B_000007 rs17884724 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Laconia Asia Minor Greek no - 1 Despoina Kalfakakou
-?/-? - c.765_779del r.(?) p.(Ala256_Ala260del) Parent #2 g.41747990_41748004del - PHOX2B_000014 rs761018157 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Evia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.768A>G r.(=) p.(=) Parent #2 g.41748001T>C - PHOX2B_000023 rs574093401 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Euboea Attika Greek no - 1 Despoina Kalfakakou
?/? - c.777A>C r.(=) p.(=) Parent #2 g.41747992T>G - PHOX2B_000019 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
?/? - c.798T>C r.(=) p.(=) Parent #2 g.41747971A>G - PHOX2B_000009 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
-?/-? - c.*18G>A r.(=) p.(=) Parent #2 g.41747806C>T - PHOX2B_000025 rs776498322 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kyllini, Elis & Asia Minor Achaea Greek no - 1 Despoina Kalfakakou
-?/-? - c.*19C>A r.(=) p.(=) Parent #2 g.41747805G>T - PHOX2B_000026 rs770841700 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kyllini, Elis & Asia Minor Achaea Greek no - 1 Despoina Kalfakakou
?/? - c.*20G>T r.(=) p.(=) Parent #2 g.41747804C>A - PHOX2B_000004 rs779171868 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Ptolemaida Nea Karvali, Kavala Greek no - 1 Despoina Kalfakakou
Legend