NM_194248.3(OTOF):c.2924C>T (p.Ala975Val) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001973287.3
Allele description [Variation Report for NM_194248.3(OTOF):c.2924C>T (p.Ala975Val)]
NM_194248.3(OTOF):c.2924C>T (p.Ala975Val)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
regulator of nonsense transcripts 3B isoform 2 [Homo sapiens]
regulator of nonsense transcripts 3B isoform 2 [Homo sapiens]gi|12711674|ref|NP_075386.1|Protein
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Last Updated: Sep 29, 2024