NM_000051.4(ATM):c.3994-121del AND Ataxia-telangiectasia syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Sep 25, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001828125.1
Allele description [Variation Report for NM_000051.4(ATM):c.3994-121del]
NM_000051.4(ATM):c.3994-121del
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
-
SRX11087377 (1)
SRA
-
Arabidopsis thaliana HMG-box (high mobility group) DNA-binding family protein (A...
Arabidopsis thaliana HMG-box (high mobility group) DNA-binding family protein (AT5G23405), mRNAgi|1063733491|ref|NM_001343801.1|Nucleotide
-
Homo sapiens zinc finger MYND-type containing 15 (ZMYND15), RefSeqGene on chromo...
Homo sapiens zinc finger MYND-type containing 15 (ZMYND15), RefSeqGene on chromosome 17gi|656214665|ref|NG_034160.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 10, 2024