Annotation Detail

Information
Associated Genes
PRX
Associated Variants
PRX p.Asp746Asn (p.D746N) ( ENST00000324001.8, ENST00000291825.11, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Asp746Asn (p.D746N) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
Associated Disease
Inborn genetic diseases
Source Database
ClinVar
Description
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn) AND Inborn genetic diseases
ClinVar Allele ID
47011
ClinVar RefSeq Alternation Syntax
NM_020956.2:c.*2156G>A
ClinVar RefSeq Alternation Syntax
NM_181882.3:c.1951G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2021-07-13
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002415441
ClinVar Disease
Inborn genetic diseases
Observed Origin Sample
germline
Drugs