NM_000051.4(ATM):c.2805G>A (p.Thr935=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002494597.1
Allele description [Variation Report for NM_000051.4(ATM):c.2805G>A (p.Thr935=)]
NM_000051.4(ATM):c.2805G>A (p.Thr935=)
Condition(s)
- Name:
- Familial cancer of breast
- Synonyms:
- Breast cancer, familial; Hereditary breast cancer
- Identifiers:
- MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
- Name:
- Ataxia-telangiectasia syndrome (AT)
- Synonyms:
- Louis-Bar syndrome; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008840; MedGen: C0004135; Orphanet: 100; OMIM: 208900
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Profile neighbors for GEO Profiles (Select 85244910) (199)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 85269242) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024