Annotation Detail
Information
- Associated Genes
- ITPA
- Associated Variants
-
ITPA p.Pro32Thr (p.P32T)
(
ENST00000380113.8,
ENST00000399838.3,
ENST00000455664.6 )
ITPA p.Pro32Thr (p.P32T) ( ENST00000380113.8, ENST00000399838.3, ENST00000455664.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_033453.4(ITPA):c.94C>A (p.Pro32Thr) AND not provided
- ClinVar Allele ID
- 29785
- ClinVar RefSeq Alternation Syntax
- NM_001267623.2:c.67-789C>A
- ClinVar RefSeq Alternation Syntax
- NM_001324238.2:c.-274-62C>A
- ClinVar RefSeq Alternation Syntax
- NM_033453.4:c.94C>A
- ClinVar RefSeq Alternation Syntax
- NR_052000.2:n.386C>A
- ClinVar RefSeq Alternation Syntax
- NM_001324236.2:c.-274-62C>A
- ClinVar RefSeq Alternation Syntax
- NM_001324240.2:c.94C>A
- ClinVar RefSeq Alternation Syntax
- NM_181493.4:c.43C>A
- ClinVar RefSeq Alternation Syntax
- NR_052002.2:n.148C>A
- ClinVar RefSeq Alternation Syntax
- NM_001324237.2:c.-244C>A
- ClinVar RefSeq Alternation Syntax
- NM_001351739.2:c.-274-62C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-05-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001711071
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs