NM_000051.4(ATM):c.192A>G (p.Leu64=) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000122827.12
Allele description [Variation Report for NM_000051.4(ATM):c.192A>G (p.Leu64=)]
NM_000051.4(ATM):c.192A>G (p.Leu64=)
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
-
NADH dehydrogenase subunit 3 (mitochondrion) [Opisthorchis felineus]
NADH dehydrogenase subunit 3 (mitochondrion) [Opisthorchis felineus]gi|195952375|gnl|NCBI_MITO|ND3_2278 |YP_002122307.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024