NM_000051.4(ATM):c.2564dup (p.Met855fs) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 14, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001390408.5
Allele description [Variation Report for NM_000051.4(ATM):c.2564dup (p.Met855fs)]
NM_000051.4(ATM):c.2564dup (p.Met855fs)
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
-
Armillaria gallica strain FOD8_21 large subunit ribosomal RNA gene and intergeni...
Armillaria gallica strain FOD8_21 large subunit ribosomal RNA gene and intergenic spacer 1, partial sequencegi|1128693950|gb|KX618609.1|Nucleotide
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Last Updated: Sep 29, 2024