NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala) AND Hearing impairment
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001375065.3
Allele description [Variation Report for NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)]
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)
Condition(s)
- Name:
- Hearing impairment
- Identifiers:
- MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365
-
PREDICTED: Mus musculus WAP, follistatin/kazal, immunoglobulin, kunitz and netri...
PREDICTED: Mus musculus WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (Wfikkn2), transcript variant X1, mRNAgi|1907082008|ref|XM_006533497.5|Nucleotide
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Last Updated: Sep 29, 2024