NM_000051.4(ATM):c.6805C>G (p.Gln2269Glu) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001876035.12
Allele description [Variation Report for NM_000051.4(ATM):c.6805C>G (p.Gln2269Glu)]
NM_000051.4(ATM):c.6805C>G (p.Gln2269Glu)
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 single WAP motif protein 2 (Swam2-pending), mRNA
Mus musculus single WAP motif protein 2 (Swam2-pending), mRNAgi|20149777|ref|NM_138684.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024