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rs1057519338

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 Common/normal
(C;T) 3 Carrier of an Alport syndrome mutation; X-linked
(T;T) 5.8 Alport syndrome; most likely in males due to X-linkage
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position110264571
GeneAMMECR1
is asnp
is mentioned by
dbSNPrs1057519338
dbSNP (classic)rs1057519338
ClinGenrs1057519338
ebirs1057519338
HLIrs1057519338
Exacrs1057519338
Gnomadrs1057519338
Varsomers1057519338
LitVarrs1057519338
Maprs1057519338
PheGenIrs1057519338
Biobankrs1057519338
1000 genomesrs1057519338
hgdprs1057519338
ensemblrs1057519338
geneviewrs1057519338
scholarrs1057519338
googlers1057519338
pharmgkbrs1057519338
gwascentralrs1057519338
openSNPrs1057519338
23andMers1057519338
23andMe allrs1057519338
SNPshotrs1057519338
SNPdbers1057519338
MSV3drs1057519338
GWAS Ctlgrs1057519338
Max Magnitude5.8

rs1057519338, also known as c.502C>T, p.Arg168Ter, R168X and R168*, represents a rare mutation in the AMMECR1 gene on the X chromosome.

A 2017 study of a 4 year old boy with Alport syndrome concluded that the rs1057519338(T) 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 also seen in an affected uncle. The mutation was not considered to be dominant since an unaffected mother carried one copy of it.[PMID 28089922]

ClinVar
Risk Rs1057519338(T;T)
Alt Rs1057519338(T;T)
Reference Rs1057519338(C;C)
Significance Pathogenic
Disease Midface hypoplasia
Variation info
Gene AMMECR1
CLNDBN Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Reversed 1
HGVS NC_000023.10:g.109507799G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000416320.1,