NM_000051.4(ATM):c.2784A>G (p.Leu928=) AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003605851.2
Allele description [Variation Report for NM_000051.4(ATM):c.2784A>G (p.Leu928=)]
NM_000051.4(ATM):c.2784A>G (p.Leu928=)
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
-
Mus musculus vesicle transport through interaction with t-SNAREs 1B (Vti1b), tra...
Mus musculus vesicle transport through interaction with t-SNAREs 1B (Vti1b), transcript variant 1, mRNAgi|255958249|ref|NM_016800.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024