rs397517925

A SNP in the USH1G gene on chromosome 17. Its most notable genotype is A;A: Usher syndrome, type 1G

Gene
USH1G
Location
Chr 1774,919,463 (GRCh38)
Highest magnitude
5.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TGoodcommon in clinvarTypical · 0.0
  2. A;TBadCarrier of an Usher syndrome mutationImportant · 3.0
  3. A;AMost notableBadUsher syndrome, type 1GVery important · 5.0

SNPedia records rs397517925 on the minus strand: (A;A), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs397517925, also known as c.1373A>T, p.Asp458Val and D458V, represents a rare mutation in the USH1G gene on chromosome 17. Inherited as an autosomal recessive, the minor allele is considered in ClinVar (and BabySeq) as likely to be pathogenic for a form of Usher syndrome (type 1G).

A;T

Unaffected in absence of another pathogenic mutation in the USH1G gene; see rs397517925

A;A

see rs397517925

Source and license

Adapted from rs397517925 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.