NM_000051.4(ATM):c.7827C>T (p.Ile2609=) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000628225.17
Allele description [Variation Report for NM_000051.4(ATM):c.7827C>T (p.Ile2609=)]
NM_000051.4(ATM):c.7827C>T (p.Ile2609=)
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
-
CBY2 chibby family member 2 [Homo sapiens]
CBY2 chibby family member 2 [Homo sapiens]Gene ID:220082Gene
-
Gene Links for GEO Profiles (Select 132461608) (1)
Gene
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Interleukin-12 effect on peripheral blood mononuclear cells (HG-U133B)
Interleukin-12 effect on peripheral blood mononuclear cells (HG-U133B)Accession: GDS3498GEO DataSets
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Related DataSets for GEO Profiles (Select 58893652) (1)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024