Annotation Detail

Information
Associated Genes
WT1 LOC107982234
Associated Variants
WT1 p.Pro71= (p.P71=) ( ENST00000452863.10, ENST00000448076.9, ENST00000332351.9, ENST00000639563.3 )
WT1 p.Pro71= (p.P71=) ( ENST00000332351.9, ENST00000448076.9, ENST00000452863.10, ENST00000639563.3 )
Associated Disease
Wilms tumor 1
Source Database
ClinVar
Description
NM_024426.6(WT1):c.213G>T (p.Pro71=) AND Wilms tumor 1
ClinVar Allele ID
254147
ClinVar RefSeq Alternation Syntax
NM_024424.5:c.213G>T
ClinVar RefSeq Alternation Syntax
NM_000378.6:c.213G>T
ClinVar RefSeq Alternation Syntax
NR_160306.1:n.392G>T
ClinVar RefSeq Alternation Syntax
NM_024426.6:c.213G>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2023-07-07
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000354183
ClinVar Disease
Wilms tumor 1
Observed Origin Sample
germline
Drugs