NM_000051.4(ATM):c.6096-15A>C AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003606482.2
Allele description [Variation Report for NM_000051.4(ATM):c.6096-15A>C]
NM_000051.4(ATM):c.6096-15A>C
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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acidic fibroblast growth factor intracellular-binding protein isoform 1 [Mus mus...
acidic fibroblast growth factor intracellular-binding protein isoform 1 [Mus musculus]gi|359465599|ref|NP_001240761.1|Protein
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Rattus norvegicus kinesin family member 3C (Kif3c), mRNA
Rattus norvegicus kinesin family member 3C (Kif3c), mRNAgi|16758243|ref|NM_053486.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024