NM_000551.4(VHL):c.233A>G (p.Asn78Ser) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000492165.12
Allele description [Variation Report for NM_000551.4(VHL):c.233A>G (p.Asn78Ser)]
NM_000551.4(VHL):c.233A>G (p.Asn78Ser)
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
-
Homo sapiens keratocan (KERA), mRNA
Homo sapiens keratocan (KERA), mRNAgi|62865891|ref|NM_007035.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024