Annotation Detail
Information
- Associated Genes
- ROR2
- Associated Variants
-
ROR2 p.Arg441ThrfsTer16 (p.R441Tfs*16)
(
ENST00000375708.4,
ENST00000375715.5 )
ROR2 p.Arg441ThrfsTer16 (p.R441Tfs*16) ( ENST00000375708.4, ENST00000375715.5 ) - Associated Disease
- Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals
- Source Database
- ClinVar
- Description
- NM_004560.4(ROR2):c.1321_1325del (p.Arg441fs) AND Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals
- ClinVar Allele ID
- 22350
- ClinVar RefSeq Alternation Syntax
- NM_001318204.2:c.1287_1291del
- ClinVar RefSeq Alternation Syntax
- NM_004560.4:c.1321_1325del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007735
- ClinVar Disease
- Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals
- Observed Origin Sample
- germline
- Pubmed
- 10986040
Drugs