NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- 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:
- RCV000411562.16
Allele description [Variation Report for NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)]
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)
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
-
Nocardiopsis flavescens strain CGMCC 4.5723, whole genome shotgun sequence
Nocardiopsis flavescens strain CGMCC 4.5723, whole genome shotgun sequencegi|1120525681|ref|NZ_FQZK01000005.1Nucleotide
-
CYGB [Propithecus coquereli]
CYGB [Propithecus coquereli]Gene ID:105824725Gene
-
tsen2 TSEN2 tRNA splicing endonuclease subunit [Danio rerio]
tsen2 TSEN2 tRNA splicing endonuclease subunit [Danio rerio]Gene ID:767713Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024