rs1057519338
From SNPedia
Orientation | minus |
Stabilized | minus |
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 |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 110264571 |
Gene | AMMECR1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519338 |
dbSNP (classic) | rs1057519338 |
ClinGen | rs1057519338 |
ebi | rs1057519338 |
HLI | rs1057519338 |
Exac | rs1057519338 |
Gnomad | rs1057519338 |
Varsome | rs1057519338 |
LitVar | rs1057519338 |
Map | rs1057519338 |
PheGenI | rs1057519338 |
Biobank | rs1057519338 |
1000 genomes | rs1057519338 |
hgdp | rs1057519338 |
ensembl | rs1057519338 |
geneview | rs1057519338 |
scholar | rs1057519338 |
rs1057519338 | |
pharmgkb | rs1057519338 |
gwascentral | rs1057519338 |
openSNP | rs1057519338 |
23andMe | rs1057519338 |
SNPshot | rs1057519338 |
SNPdbe | rs1057519338 |
MSV3d | rs1057519338 |
GWAS Ctlg | rs1057519338 |
Max Magnitude | 5.8 |
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, |