NM_000051.4(ATM):c.4083G>A (p.Gln1361=) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001416216.15
Allele description [Variation Report for NM_000051.4(ATM):c.4083G>A (p.Gln1361=)]
NM_000051.4(ATM):c.4083G>A (p.Gln1361=)
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
-
LOW QUALITY PROTEIN: kin of IRRE-like protein 3 [Cottoperca gobio]
LOW QUALITY PROTEIN: kin of IRRE-like protein 3 [Cottoperca gobio]gi|1678725515|ref|XP_029304612.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024