rs1057519338
A SNP in the AMMECR1 gene on chromosome X. Its most notable genotype is A;A: Alport syndrome; most likely in males due to X-linkage
- Gene
- AMMECR1
- Location
- Chr X110,264,571 (GRCh38)
- Highest magnitude
- 5.8Very important
- Tested on
- Not on consumer chips
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodCommon/normal
- A;GBadCarrier of an Alport syndrome mutation; X-linked
- A;AMost notableBadAlport syndrome; most likely in males due to X-linkage
SNPedia records rs1057519338 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 140 words
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.
A;G
Mothers with this genotype are unaffected but have a 50% chance of having an affected son; see discussion at rs1057519338 and at Alport syndrome.
A;A
Likely to have a form of Alport syndrome; see discussion there and at rs1057519338
Source and license
Adapted from rs1057519338 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.