NM_000051.4(ATM):c.2857G>A (p.Glu953Lys) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000812384.5
Allele description [Variation Report for NM_000051.4(ATM):c.2857G>A (p.Glu953Lys)]
NM_000051.4(ATM):c.2857G>A (p.Glu953Lys)
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
-
zinc finger protein 330 isoform 1 [Homo sapiens]
zinc finger protein 330 isoform 1 [Homo sapiens]gi|7657196|ref|NP_055302.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024