Annotation Detail

Information
Associated Genes
SFRP4
Associated Variants
SFRP4 p.Arg340Lys (p.R340K), ENSG00000290149 c.-37-41339C>T ( ENST00000436072.7 )
SFRP4 p.Arg340Lys (p.R340K), ENSG00000290149 c.-37-41339C>T ( ENST00000436072.7 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_003014.4(SFRP4):c.1019G>A (p.Arg340Lys) AND not provided
ClinVar Allele ID
1323676
ClinVar RefSeq Alternation Syntax
NM_003014.4:c.1019G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-01-31
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002077259
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs