NM_173477.5(USH1G):c.607C>T (p.Gln203Ter) AND Usher syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003123554.3
Allele description [Variation Report for NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)]
NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)
Condition(s)
-
Homo sapiens POU class 6 homeobox 2 (POU6F2), mRNA
Homo sapiens POU class 6 homeobox 2 (POU6F2), mRNAgi|51873039|ref|NM_007252.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Nov 11, 2023