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rs151344624

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TTC) 3 Carrier of a hyperinsulinemic hypoglycemia mutation
(TCT;TCT) 0 common in clinvar
(TT;TT) 0 common in clinvar
(TTC;TTC) 0 common in clinvar


Make rs151344624(-;-)
ReferenceGRCh38 38.1/141
Chromosome11
Position17395889
GeneABCC8
is asnp
is mentioned by
dbSNPrs151344624
dbSNP (classic)rs151344624
ClinGenrs151344624
ebirs151344624
HLIrs151344624
Exacrs151344624
Gnomadrs151344624
Varsomers151344624
LitVarrs151344624
Maprs151344624
PheGenIrs151344624
Biobankrs151344624
1000 genomesrs151344624
hgdprs151344624
ensemblrs151344624
geneviewrs151344624
scholarrs151344624
googlers151344624
pharmgkbrs151344624
gwascentralrs151344624
openSNPrs151344624
23andMers151344624
23andMe allrs151344624
SNPshotrs151344624
SNPdbers151344624
MSV3drs151344624
GWAS Ctlgrs151344624
Merged fromRs771251369
Max Magnitude3

aka c.4163_4165delTCT (p.Phe1388del)

This variant is considered a founder mutation in Ashkenazi Jews, where the combined carrier frequency of this variant and rs151344623 is reported to be 1 in 52, giving an estimated frequency of homozygosity or compound heterozygosity of 1 in 10,816 in this population. The risk of focal CHI is 1 in 540 per pregnancy in offspring of carrier fathers because there can be somatic loss of heterozygosity causing the focal form of the disease.OMIM


ClinVar
Risk Rs151344624(TCT;TCT) rs151344624(-;-)
Alt Rs151344624(TCT;TCT) rs151344624(-;-)
Reference Rs151344624(TTC;TTC)
Significance Pathogenic
Disease Persistent hyperinsulinemic hypoglycemia of infancy not provided
Variation info
Gene ABCC8
CLNDBN Persistent hyperinsulinemic hypoglycemia of infancy not provided
Reversed 1
HGVS NC_000011.9:g.17417435_17417437delAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000177757.2, RCV000201913.1,