NM_000551.4(VHL):c.393C>T (p.Asn131=) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002373270.2
Allele description [Variation Report for NM_000551.4(VHL):c.393C>T (p.Asn131=)]
NM_000551.4(VHL):c.393C>T (p.Asn131=)
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 GRB2 binding adaptor protein, transmembrane (GAPT), tran...
PREDICTED: Homo sapiens GRB2 binding adaptor protein, transmembrane (GAPT), transcript variant X2, mRNAgi|2462601324|ref|XM_054352008.1|Nucleotide
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Last Updated: May 1, 2024