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
- Frasier syndrome
- Source Database
- ClinVar
- Description
- NM_024426.6(WT1):c.213G>T (p.Pro71=) AND Frasier syndrome
- 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
- 2021-12-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002244663
- ClinVar Disease
- Frasier syndrome
- Observed Origin Sample
- germline
Drugs