Annotation Detail
Information
- Associated Genes
- SLC5A7
- Associated Variants
-
SLC5A7 p.Ile89Val (p.I89V)
(
ENST00000264047.3,
ENST00000409059.5 )
SLC5A7 p.Ile89Val (p.I89V) ( ENST00000264047.3, ENST00000409059.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_021815.5(SLC5A7):c.265A>G (p.Ile89Val) AND not provided
- ClinVar Allele ID
- 250078
- ClinVar RefSeq Alternation Syntax
- NM_001305006.3:c.-51A>G
- ClinVar RefSeq Alternation Syntax
- NM_001305005.3:c.265A>G
- ClinVar RefSeq Alternation Syntax
- NM_021815.5:c.265A>G
- ClinVar RefSeq Alternation Syntax
- NM_001305007.3:c.-440A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-11-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001610723
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs