NM_000465.4(BARD1):c.2272G>C (p.Ala758Pro) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003165468.2
Allele description [Variation Report for NM_000465.4(BARD1):c.2272G>C (p.Ala758Pro)]
NM_000465.4(BARD1):c.2272G>C (p.Ala758Pro)
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
-
Mus musculus G protein-coupled receptor kinase 2 (Grk2), transcript variant 2, m...
Mus musculus G protein-coupled receptor kinase 2 (Grk2), transcript variant 2, mRNAgi|2624691732|ref|NM_130863.3|Nucleotide
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Homo sapiens 1 DISC2 gene, complete sequence
Homo sapiens 1 DISC2 gene, complete sequencegi|8163870|gb|AF222981.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024