NM_000051.4(ATM):c.7961C>T (p.Thr2654Ile) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001042093.14
Allele description [Variation Report for NM_000051.4(ATM):c.7961C>T (p.Thr2654Ile)]
NM_000051.4(ATM):c.7961C>T (p.Thr2654Ile)
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
-
Mus musculus CD320 antigen (Cd320), transcript variant 2, mRNA
Mus musculus CD320 antigen (Cd320), transcript variant 2, mRNAgi|761631391|ref|NM_001305169.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024