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rs1057519337

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5.8 Alport syndrome; most likely in males due to X-linkage
(A;G) 3 Carrier of an Alport syndrome mutation; X-linked
(G;G) 0 common/normal
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position110264543
GeneAMMECR1
is asnp
is mentioned by
dbSNPrs1057519337
dbSNP (old)rs1057519337
ClinGenrs1057519337
ebirs1057519337
HLIrs1057519337
Exacrs1057519337
Gnomadrs1057519337
Varsomers1057519337
LitVarrs1057519337
Maprs1057519337
PheGenIrs1057519337
Biobankrs1057519337
1000 genomesrs1057519337
hgdprs1057519337
ensemblrs1057519337
gopubmedrs1057519337
geneviewrs1057519337
scholarrs1057519337
googlers1057519337
pharmgkbrs1057519337
gwascentralrs1057519337
openSNPrs1057519337
23andMers1057519337
23andMe allrs1057519337
SNPshotrs1057519337
SNPdbers1057519337
MSV3drs1057519337
GWAS Ctlgrs1057519337
Max Magnitude5.8

rs1057519337, also known as c.530G>A, p.Gly177Asp and G177D, represents a rare mutation in the AMMECR1 gene on the X chromosome.

A 2016 study of two Caucasian maternal half brothers with Alport syndrome concluded that the rs1057519337(A) allele, when inherited hemizygously (as normally inherited in a male), is responsible for the disorder. Clinically, the condition includes midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. The mutation was not considered to be dominant since the (unaffected) mother carried one copy of it.[PMID 27811305OA-icon.png];news post

ClinVar
Risk Rs1057519337(A;A)
Alt Rs1057519337(A;A)
Reference Rs1057519337(G;G)
Significance Pathogenic
Disease Midface hypoplasia
Variation info
Gene AMMECR1
CLNDBN Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Reversed 1
HGVS NC_000023.10:g.109507771C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000416359.2,