Full data view for gene PHOX2B

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

5 entries on 1 page. Showing entries 1 - 5.
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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     

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Panel size     

Owner     
-?/-? - 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
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