Annotation Detail
Information
- Associated Genes
- SFRP4
- Associated Variants
-
SFRP4 p.Pro320Thr (p.P320T), ENSG00000290149 c.-37-41278G>T
(
ENST00000436072.7 )
SFRP4 p.Pro320Thr (p.P320T), ENSG00000290149 c.-37-41278G>T ( ENST00000436072.7 ) - Associated Disease
- Pyle metaphyseal dysplasia
- Source Database
- ClinVar
- Description
- NM_003014.4(SFRP4):c.958C>A (p.Pro320Thr) AND Pyle metaphyseal dysplasia
- ClinVar Allele ID
- 1276928
- ClinVar RefSeq Alternation Syntax
- NM_003014.4:c.958C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001807512
- ClinVar Disease
- Pyle metaphyseal dysplasia
- Observed Origin Sample
- germline
Drugs