rs1057519338

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
google	rs1057519338
pharmgkb	rs1057519338
gwascentral	rs1057519338
openSNP	rs1057519338
23andMe	rs1057519338
23andMe all	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,