NM_000143.4(FH):c.1093A>G (p.Ser365Gly) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000220270.13
Allele description [Variation Report for NM_000143.4(FH):c.1093A>G (p.Ser365Gly)]
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
PREDICTED: Homo sapiens OPA1 mitochondrial dynamin like GTPase (OPA1), transcrip...
PREDICTED: Homo sapiens OPA1 mitochondrial dynamin like GTPase (OPA1), transcript variant X13, mRNAgi|2462590087|ref|XM_054346662.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024