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rs59172778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of a type 2 Bartter syndrome allele
(G;G) 6 Bartter syndrome, type 2
ReferenceGRCh38 38.1/141
Chromosome11
Position128839231
GeneKCNJ1
is asnp
is mentioned by
dbSNPrs59172778
ebirs59172778
HLIrs59172778
Exacrs59172778
Varsomers59172778
Maprs59172778
PheGenIrs59172778
hapmaprs59172778
1000 genomesrs59172778
hgdprs59172778
ensemblrs59172778
gopubmedrs59172778
geneviewrs59172778
scholarrs59172778
googlers59172778
pharmgkbrs59172778
gwascentralrs59172778
openSNPrs59172778
23andMers59172778
23andMe allrs59172778
SNP Nexus

SNPshotrs59172778
SNPdbers59172778
MSV3drs59172778
GWAS Ctlgrs59172778
GMAF0.005051
Max Magnitude6

rs59172778, also known as c.1013T>C or p.Met338Thr, is a mutation in the KCNJ1 gene.

The rare rs59172778(G) allele is reported to a mutation leading to the recessively inherited type 2 Bartter syndrome. The (G) allele is rare, usually being found in just under 1% of allele counts, but Bartter syndrome may be rarer and the presentation is often heterogeneous. This implies that the (G) allele may not be fully causative or penetrant.

OMIM600359
Desc
Variant0006
Relatedalso


ClinVar
Risk rs59172778(G;G)
Alt rs59172778(G;G)
Reference rs59172778(A;A)
Significance Pathogenic
Disease Bartter syndrome not specified not provided
Variation info
Gene KCNJ1
CLNDBN Bartter syndrome, type 2, antenatal not specified not provided
Reversed 0
HGVS NC_000011.9:g.128709126A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009728.2, RCV000202885.1, RCV000224891.1,



GET Evidence
KCNJ1-M357T
aa_change Met357Thr
aa_change_short M357T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00632088
summary