NM_000051.4(ATM):c.6025T>A (p.Tyr2009Asn) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001364455.14
Allele description [Variation Report for NM_000051.4(ATM):c.6025T>A (p.Tyr2009Asn)]
NM_000051.4(ATM):c.6025T>A (p.Tyr2009Asn)
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
-
COG8 [Sorex araneus]
COG8 [Sorex araneus]Gene ID:101542633Gene
-
MAN1A1 [Pogona vitticeps]
MAN1A1 [Pogona vitticeps]Gene ID:110083601Gene
-
LOC125905107 [Epinephelus fuscoguttatus]
LOC125905107 [Epinephelus fuscoguttatus]Gene ID:125905107Gene
-
LOC7486657 [Populus trichocarpa]
LOC7486657 [Populus trichocarpa]Gene ID:7486657Gene
-
LOC7486998 [Populus trichocarpa]
LOC7486998 [Populus trichocarpa]Gene ID:7486998Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024