NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000409906.9
Allele description [Variation Report for NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)]
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)
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
Assertion and evidence details
Last Updated: Sep 29, 2024