NM_000051.4(ATM):c.7865C>T (p.Ala2622Val) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001026887.12
Allele description [Variation Report for NM_000051.4(ATM):c.7865C>T (p.Ala2622Val)]
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val)
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: Rattus norvegicus potassium voltage-gated channel subfamily B member ...
PREDICTED: Rattus norvegicus potassium voltage-gated channel subfamily B member 1 (Kcnb1), transcript variant X1, misc_RNAgi|2678927468|ref|XR_010064569.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024