NM_000051.4(ATM):c.6158C>G (p.Thr2053Arg) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002042574.11
Allele description [Variation Report for NM_000051.4(ATM):c.6158C>G (p.Thr2053Arg)]
NM_000051.4(ATM):c.6158C>G (p.Thr2053Arg)
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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Slc38a8 solute carrier family 38, member 8 [Mus musculus]
Slc38a8 solute carrier family 38, member 8 [Mus musculus]Gene ID:234788Gene
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234788[uid] AND (alive[prop]) (1)
Gene
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Homo sapiens phosphatidylinositol glycan anchor biosynthesis class M (PIGM), Ref...
Homo sapiens phosphatidylinositol glycan anchor biosynthesis class M (PIGM), RefSeqGene on chromosome 1gi|238637290|ref|NG_012238.1|Nucleotide
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Neoplasms, Adnexal and Skin Appendage
Neoplasms, Adnexal and Skin AppendageNeoplasms composed of sebaceous or sweat gland tissue or tissue of other skin appendages. The concept does not refer to neoplasms located in the sebaceous or sweat glands or i...<br/>Year introduced: 1998MeSH
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Cities
CitiesA large or important municipality of a country, usually a major metropolitan center.<br/>Year introduced: 1998MeSH
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Last Updated: Sep 29, 2024