NM_000051.4(ATM):c.186-13T>A AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002003139.5
Allele description
NM_000051.4(ATM):c.186-13T>A
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
-
990593[uid] (1)
Taxonomy
-
dynein light chain 1, axonemal isoform X1 [Mastomys coucha]
dynein light chain 1, axonemal isoform X1 [Mastomys coucha]gi|1768057952|ref|XP_031212036.1|Protein
-
xyloside xylosyltransferase 1 [Cynoglossus semilaevis]
xyloside xylosyltransferase 1 [Cynoglossus semilaevis]gi|1389913773|ref|XP_024909908.1|Protein
-
Clostridium botulinum strain CDC37461, whole genome shotgun sequencing project
Clostridium botulinum strain CDC37461, whole genome shotgun sequencing projectgi|666367704|gb|JFGI00000000.1|JFGI 000Nucleotide
-
dinitrogenase reductase, partial [uncultured bacterium]
dinitrogenase reductase, partial [uncultured bacterium]gi|262176154|gb|ACY27134.1|Protein
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024