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
- Roifman syndrome
- Source Database
- ClinVar
- Description
- NM_001395891.1(CLASP1):c.196-604C>T AND Roifman syndrome
- 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
- Likely pathogenic
- Clinical Significance Last Update
- 2021-05-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003225025
- ClinVar Disease
- Roifman syndrome
- Observed Origin Sample
- maternal
Drugs