NM_000051.4(ATM):c.2067A>G (p.Ser689=) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 23, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001489488.8
Allele description [Variation Report for NM_000051.4(ATM):c.2067A>G (p.Ser689=)]
NM_000051.4(ATM):c.2067A>G (p.Ser689=)
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
-
essv16438027 (0)
BioProject
-
essv16438119 (0)
Protein
-
essv16437828 (0)
MeSH
-
essv16438027 AND (alive[prop]) (0)
Gene
-
essv16438035 (0)
SRA
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024