NM_000136.3(FANCC):c.1329+181_1329+183del AND FANCC-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003407513.4
Allele description [Variation Report for NM_000136.3(FANCC):c.1329+181_1329+183del]
NM_000136.3(FANCC):c.1329+181_1329+183del
Condition(s)
- Name:
- FANCC-related disorder
- Synonyms:
- FANCC-related condition
- Identifiers:
-
84947[uid] AND (alive[prop]) (1)
Gene
-
SERAC1 serine active site containing 1 [Homo sapiens]
SERAC1 serine active site containing 1 [Homo sapiens]Gene ID:84947Gene
-
OTOF otoferlin [Homo sapiens]
OTOF otoferlin [Homo sapiens]Gene ID:9381Gene
-
9381[uid] AND (alive[prop]) (1)
Gene
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Last Updated: May 26, 2024