NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001045119.13
Allele description [Variation Report for NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)]
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)
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
-
hypothetical protein DAPPUDRAFT_318119 [Daphnia pulex]
hypothetical protein DAPPUDRAFT_318119 [Daphnia pulex]gi|321469994|gb|EFX80972.1||gnl|WGS |DAPPUDRAFT_318119Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024