NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000476653.18
Allele description [Variation Report for NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)]
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)
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
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Homo sapiens glycosyltransferase 25 domain containing 2, mRNA (cDNA clone MGC:46...
Homo sapiens glycosyltransferase 25 domain containing 2, mRNA (cDNA clone MGC:46343 IMAGE:5740842), complete cdsgi|23273042|gb|BC035672.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 87926308) (0)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 87921861) (20)
GEO Profiles
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Homo sapiens FK506 binding protein 9-like, mRNA (cDNA clone IMAGE:3028515)
Homo sapiens FK506 binding protein 9-like, mRNA (cDNA clone IMAGE:3028515)gi|33990566|gb|BC011872.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024