NM_080680.3(COL11A2):c.4294G>T (p.Gly1432Ter) AND Autosomal recessive nonsyndromic hearing loss 53
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002250856.1
Allele description [Variation Report for NM_080680.3(COL11A2):c.4294G>T (p.Gly1432Ter)]
NM_080680.3(COL11A2):c.4294G>T (p.Gly1432Ter)
Condition(s)
-
ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltra...
ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [Homo sapiens]Gene ID:28Gene
-
Gene Links for GEO Profiles (Select 2935645) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023