NM_000051.4(ATM):c.7928-6A>T AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002059912.13
Allele description
NM_000051.4(ATM):c.7928-6A>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
-
Homo sapiens uncharacterized LOC105378948 (LOC105378948), transcript variant 1, ...
Homo sapiens uncharacterized LOC105378948 (LOC105378948), transcript variant 1, long non-coding RNAgi|1841851502|ref|NR_168432.1|Nucleotide
-
Mus musculus claudin 19 mRNA, complete cds
Mus musculus claudin 19 mRNA, complete cdsgi|37993741|gb|AF486651.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024