Unique variants in gene PHOX2B

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

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/? 1 - c.-7del r.(=) p.(=) g.41750634del - PHOX2B_000006 rs1180196980 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.69C>T r.(=) p.(=) g.41750559G>A - PHOX2B_000005 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.242-52G>T r.(=) p.(=) g.41749605C>A - PHOX2B_000027 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.242-45T>G r.(=) p.(=) g.41749598A>C - PHOX2B_000010 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.344G>A r.(?) p.(Arg115Lys) g.41749451C>T - PHOX2B_000013 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.429+4C>T r.spl? p.? g.41749362G>A - PHOX2B_000022 rs1173248729 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.429+38T>C r.(=) p.(=) g.41749328A>G - PHOX2B_000011 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.679G>T r.(?) p.(Ala227Ser) g.41748090C>A - PHOX2B_000003 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.680C>T r.(?) p.(Ala227Val) g.41748089G>A - PHOX2B_000002 rs779913205 - Germline - - - - Despoina Kalfakakou
-?/-? 14 - c.726A>G r.(=) p.(=) g.41748043T>C - PHOX2B_000001 rs757355779 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.729_749del r.(?) p.(Ala254_Ala260del) g.41748020_41748040del - PHOX2B_000016 rs772448418 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.732G>C r.(=) p.(=) g.41748037C>G - PHOX2B_000024 rs1185437293 - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.738_776del r.(?) p.(Ala248_Ala260del) g.41747993_41748031del - PHOX2B_000008 rs757020181 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.741C>A r.(=) p.(=) g.41748028G>T - PHOX2B_000021 rs764470906 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.741_755del r.(?) p.(Ala256_Ala260del) g.41748014_41748028del - PHOX2B_000017 rs775006915 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.741_758del r.(?) p.(Ala255_Ala260del) g.41748011_41748028del - PHOX2B_000020 rs771383153 - Germline - - - - Despoina Kalfakakou
-/- 2 - c.741_761del r.(?) p.(Ala254_Ala260del) g.41748008_41748028del - PHOX2B_000015 rs749694204 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.750G>A r.(=) p.(=) g.41748019C>T - PHOX2B_000018 rs17882335 - Germline - - - - Despoina Kalfakakou
-?/-? 5 - c.756_776del r.(?) p.(Ala254_Ala260del) g.41747993_41748013del - PHOX2B_000012 rs17879189 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.759G>A r.(=) p.(=) g.41748010C>T - PHOX2B_000028 rs1018522821 - Germline - - - - Despoina Kalfakakou
-/- 2 - c.762A>G r.(=) p.(=) g.41748007T>C - PHOX2B_000007 rs17884724 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.765_779del r.(?) p.(Ala256_Ala260del) g.41747990_41748004del - PHOX2B_000014 rs761018157 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.768A>G r.(=) p.(=) g.41748001T>C - PHOX2B_000023 rs574093401 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.777A>C r.(=) p.(=) g.41747992T>G - PHOX2B_000019 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.798T>C r.(=) p.(=) g.41747971A>G - PHOX2B_000009 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.*18G>A r.(=) p.(=) g.41747806C>T - PHOX2B_000025 rs776498322 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.*19C>A r.(=) p.(=) g.41747805G>T - PHOX2B_000026 rs770841700 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*20G>T r.(=) p.(=) g.41747804C>A - PHOX2B_000004 rs779171868 - Germline - - - - Despoina Kalfakakou
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