rs151344624

minus

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(-;-)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17395889

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs151344624
dbSNP (classic)	rs151344624
ClinGen	rs151344624
ebi	rs151344624
HLI	rs151344624
Exac	rs151344624
Gnomad	rs151344624
Varsome	rs151344624
LitVar	rs151344624
Map	rs151344624
PheGenI	rs151344624
Biobank	rs151344624
1000 genomes	rs151344624
hgdp	rs151344624
ensembl	rs151344624
geneview	rs151344624
scholar	rs151344624
google	rs151344624
pharmgkb	rs151344624
gwascentral	rs151344624
openSNP	rs151344624
23andMe	rs151344624
SNPshot	rs151344624
SNPdbe	rs151344624
MSV3d	rs151344624
GWAS Ctlg	rs151344624

Merged from

Rs771251369

Max Magnitude

3

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,