NM_000051.4(ATM):c.6153C>T (p.Leu2051=) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- 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:
- RCV000628307.17
Allele description [Variation Report for NM_000051.4(ATM):c.6153C>T (p.Leu2051=)]
NM_000051.4(ATM):c.6153C>T (p.Leu2051=)
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
-
Homo sapiens guanylate cyclase mRNA, complete mature peptide
Homo sapiens guanylate cyclase mRNA, complete mature peptidegi|292071|gb|L13436.1|HUMGUANCYCNucleotide
-
Synthetic construct Mus musculus clone IMAGE:100064038, MGC:193409 nuclear recep...
Synthetic construct Mus musculus clone IMAGE:100064038, MGC:193409 nuclear receptor coactivator 7 (Ncoa7) mRNA, encodes complete proteingi|182888464|gb|BC160294.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024