NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000474857.17
Allele description [Variation Report for NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn)]
NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn)
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 45-like isoform X1 [Xenopus tropicalis]
zinc finger protein 45-like isoform X1 [Xenopus tropicalis]gi|1785343795|ref|XP_031750594.1|Protein
-
Pseudomonas fluorescens strain:SORGH_AS 191
Pseudomonas fluorescens strain:SORGH_AS 191Pseudomonas fluorescens SORGH_AS 191 genome sequencingBioProject
-
carboxy terminal-processing peptidase [Elizabethkingia sp. M8]
carboxy terminal-processing peptidase [Elizabethkingia sp. M8]gi|1954803030|gnl|PRJNA684987|JCR23 0|gb|QQM25286.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024