NM_000051.4(ATM):c.2141C>G (p.Thr714Ser) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 27, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001229552.6
Allele description
NM_000051.4(ATM):c.2141C>G (p.Thr714Ser)
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
-
txid50947[Organism] (3)
Nucleotide
-
tail fiber adhesin [Enterobacteria phage Mi]
tail fiber adhesin [Enterobacteria phage Mi]gi|356689998|gb|AET36511.1|Protein
-
txid697291[Organism] (275)
Protein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024