NM_000136.3(FANCC):c.422C>T (p.Ala141Val) AND Fanconi anemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001922237.6
Allele description [Variation Report for NM_000136.3(FANCC):c.422C>T (p.Ala141Val)]
NM_000136.3(FANCC):c.422C>T (p.Ala141Val)
Condition(s)
-
extended synaptotagmin-2 [Homo sapiens]
extended synaptotagmin-2 [Homo sapiens]gi|45387945|ref|NP_065779.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024