NM_000051.4(ATM):c.5675-2dup AND Ataxia-telangiectasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001367450.5
Allele description [Variation Report for NM_000051.4(ATM):c.5675-2dup]
NM_000051.4(ATM):c.5675-2dup
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
-
Crossoptilon adenylate cyclase type 5 (ADCY5) gene, partial cds.
Crossoptilon adenylate cyclase type 5 (ADCY5) gene, partial cds.PopSet: 1478591079PopSet
-
Capra hircus growth differentiation factor 9 (GDF9) gene, complete cds.
Capra hircus growth differentiation factor 9 (GDF9) gene, complete cds.PopSet: 2490825583PopSet
-
Capra hircus inhibin alpha chain precursor (INHA) gene, exon 2 and partial cds.
Capra hircus inhibin alpha chain precursor (INHA) gene, exon 2 and partial cds.PopSet: 2476882348PopSet
-
nad2 [Phlebia radiata]
nad2 [Phlebia radiata]Gene ID:14469540Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024