NM_000051.4(ATM):c.2086G>A (p.Gly696Arg) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003607275.2
Allele description [Variation Report for NM_000051.4(ATM):c.2086G>A (p.Gly696Arg)]
NM_000051.4(ATM):c.2086G>A (p.Gly696Arg)
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
-
essv16437918 (2)
dbVar
-
nssv2796915 (1)
dbVar
-
nssv2792231 (1)
dbVar
-
nssv2789037 (1)
dbVar
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Last Updated: Oct 8, 2024