NM_000051.4(ATM):c.1977G>A (p.Lys659=) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 25, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001489070.7
Allele description [Variation Report for NM_000051.4(ATM):c.1977G>A (p.Lys659=)]
NM_000051.4(ATM):c.1977G>A (p.Lys659=)
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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MNS27676 Mouse Neurosphere Normalized cDNA library Mus musculus cDNA 5', mRNA se...
MNS27676 Mouse Neurosphere Normalized cDNA library Mus musculus cDNA 5', mRNA sequencegi|56864950|gnl|dbEST|26831522|gb|C 58.1|Nucleotide
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Last Updated: Sep 29, 2024