NM_000077.5(CDKN2A):c.431G>T (p.Arg144Leu) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Nov 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000776379.6
Allele description [Variation Report for NM_000077.5(CDKN2A):c.431G>T (p.Arg144Leu)]
NM_000077.5(CDKN2A):c.431G>T (p.Arg144Leu)
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
-
ZNF414 (2303)
Nucleotide
-
609087 (1)
OMIM
-
Tritia obsoleta lophotrochin mRNA, complete cds
Tritia obsoleta lophotrochin mRNA, complete cdsgi|1837629200|gb|MT127427.1|Nucleotide
-
Bifunctional apoptosis regulator [Homo sapiens]
Bifunctional apoptosis regulator [Homo sapiens]gi|12804383|gb|AAH03054.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024