NM_000051.4(ATM):c.6976-11T>A AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002135910.14
Allele description [Variation Report for NM_000051.4(ATM):c.6976-11T>A]
NM_000051.4(ATM):c.6976-11T>A
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
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Wsc4p [Saccharomyces cerevisiae S288C]
Wsc4p [Saccharomyces cerevisiae S288C]gi|6321759|ref|NP_011835.1|Protein
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AGENCOURT_15940895 XtSt10-30 Xenopus tropicalis cDNA clone IMAGE:7027330 3', mRN...
AGENCOURT_15940895 XtSt10-30 Xenopus tropicalis cDNA clone IMAGE:7027330 3', mRNA sequencegi|37747941|gnl|dbEST|20094833|gb|C 69.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024