Annotation Detail
Information
- Associated Genes
- CLASP1 RNU4ATAC
- Associated Variants
-
CLASP1 c.196-604C>T
(
ENST00000263710.8,
ENST00000409078.8,
ENST00000455322.7,
ENST00000541377.5,
ENST00000696935.1,
ENST00000700754.1,
ENST00000700755.1 )
CLASP1 c.196-604C>T ( ENST00000263710.8, ENST00000409078.8, ENST00000455322.7, ENST00000541377.5, ENST00000696935.1, ENST00000700754.1, ENST00000700755.1 ) - Associated Disease
- Osteodysplastic primordial dwarfism, type 1
- Source Database
- ClinVar
- Description
- NM_001395891.1(CLASP1):c.196-604C>T AND Osteodysplastic primordial dwarfism, type 1
- ClinVar Allele ID
- 39140
- ClinVar RefSeq Alternation Syntax
- NM_001395891.1:c.196-604C>T
- ClinVar RefSeq Alternation Syntax
- NM_015282.3:c.196-604C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378003.1:c.196-604C>T
- ClinVar RefSeq Alternation Syntax
- NM_001142274.2:c.196-604C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378005.1:c.196-604C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378004.1:c.196-604C>T
- ClinVar RefSeq Alternation Syntax
- NM_001142273.2:c.196-604C>T
- ClinVar RefSeq Alternation Syntax
- NR_023343.1:n.50G>A
- ClinVar RefSeq Alternation Syntax
- NM_001207051.2:c.196-604C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-04-08
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000023102
- ClinVar Disease
- Osteodysplastic primordial dwarfism, type 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 21474761
Drugs