Annotation Detail
Information
- Associated Genes
- SLC5A2 RUSF1
- Associated Variants
-
RUSF1 c.*306A>G, SLC5A2 p.Tyr671= (p.Y671=)
(
ENST00000567994.5,
ENST00000327237.7,
ENST00000570164.5,
ENST00000330498.4 )
RUSF1 c.*306A>G, SLC5A2 p.Tyr671= (p.Y671=) ( ENST00000330498.4, ENST00000327237.7, ENST00000567994.5, ENST00000570164.5 ) - Associated Disease
- Familial renal glucosuria
- Source Database
- ClinVar
- Description
- NM_003041.4(SLC5A2):c.2013T>C (p.Tyr671=) AND Familial renal glucosuria
- ClinVar Allele ID
- 875188
- ClinVar RefSeq Alternation Syntax
- NM_022744.4:c.*306A>G
- ClinVar RefSeq Alternation Syntax
- NM_003041.4:c.2013T>C
- ClinVar RefSeq Alternation Syntax
- NR_130783.2:n.1707T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001116119
- ClinVar Disease
- Familial renal glucosuria
- Observed Origin Sample
- germline
Drugs