Annotation Detail
Information
- Associated Genes
- SMARCA4
- Associated Variants
-
SMARCA4 p.Arg1502His (p.R1502H)
(
ENST00000541122.6,
ENST00000344626.10,
ENST00000429416.8,
ENST00000444061.8,
ENST00000589677.5,
ENST00000590574.6,
ENST00000642628.1,
ENST00000642726.1,
ENST00000643296.1,
ENST00000643549.1,
ENST00000644737.1,
ENST00000645460.1,
ENST00000646484.1,
ENST00000646510.1,
ENST00000646693.2,
ENST00000647230.1,
ENST00000711079.1 )
SMARCA4 p.Arg1502His (p.R1502H) ( ENST00000344626.10, ENST00000429416.8, ENST00000444061.8, ENST00000541122.6, ENST00000589677.5, ENST00000590574.6, ENST00000642628.1, ENST00000642726.1, ENST00000643296.1, ENST00000643549.1, ENST00000644737.1, ENST00000645460.1, ENST00000646484.1, ENST00000646510.1, ENST00000646693.2, ENST00000647230.1, ENST00000711079.1 ) - Associated Disease
- Intellectual disability, autosomal dominant 16
- Source Database
- ClinVar
- Description
- NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His) AND Intellectual disability, autosomal dominant 16
- ClinVar Allele ID
- 470281
- ClinVar RefSeq Alternation Syntax
- NM_001128845.2:c.4415G>A
- ClinVar RefSeq Alternation Syntax
- NM_001128847.4:c.4406G>A
- ClinVar RefSeq Alternation Syntax
- NM_003072.5:c.4505G>A
- ClinVar RefSeq Alternation Syntax
- NM_001374457.1:c.4406G>A
- ClinVar RefSeq Alternation Syntax
- NR_164683.1:n.4892G>A
- ClinVar RefSeq Alternation Syntax
- NM_001128844.3:c.4505G>A
- ClinVar RefSeq Alternation Syntax
- NM_001128846.2:c.4412G>A
- ClinVar RefSeq Alternation Syntax
- NM_001387283.1:c.4601G>A
- ClinVar RefSeq Alternation Syntax
- NM_001128849.3:c.4601G>A
- ClinVar RefSeq Alternation Syntax
- NM_001128848.2:c.4403G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-07-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001809531
- ClinVar Disease
- Intellectual disability, autosomal dominant 16
- Observed Origin Sample
- germline
Drugs