NM_000051.4(ATM):c.7267_7270delinsTAC (p.Glu2423fs) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 24, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000812417.13
Allele description [Variation Report for NM_000051.4(ATM):c.7267_7270delinsTAC (p.Glu2423fs)]
NM_000051.4(ATM):c.7267_7270delinsTAC (p.Glu2423fs)
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
-
KIAA0040 [Lemur catta]
KIAA0040 [Lemur catta]Gene ID:123635276Gene
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Last Updated: Oct 20, 2024