NM_000051.4(ATM):c.6007-11C>T AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (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:
- RCV002216379.14
Allele description [Variation Report for NM_000051.4(ATM):c.6007-11C>T]
NM_000051.4(ATM):c.6007-11C>T
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
-
PREDICTED: Homo sapiens glucokinase regulator (GCKR), transcript variant X1, mRN...
PREDICTED: Homo sapiens glucokinase regulator (GCKR), transcript variant X1, mRNAgi|2217326928|ref|XM_017003796.2|Nucleotide
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Last Updated: Oct 13, 2024