NM_000051.4(ATM):c.2088A>G (p.Gly696=) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002060451.6
Allele description [Variation Report for NM_000051.4(ATM):c.2088A>G (p.Gly696=)]
NM_000051.4(ATM):c.2088A>G (p.Gly696=)
Condition(s)
- 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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PREDICTED: Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), trans...
PREDICTED: Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant X4, mRNAgi|2217296789|ref|XM_047431137.1|Nucleotide
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LOC127882766 [Homo sapiens]
LOC127882766 [Homo sapiens]Gene ID:127882766Gene
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Last Updated: Sep 29, 2024