Annotation Detail
Information
- Associated Genes
- SLC4A5
- Associated Variants
-
SLC4A5 c.2434-214T>C
(
ENST00000377634.8,
ENST00000394019.7,
ENST00000423644.5,
ENST00000346834.8,
ENST00000358683.8,
ENST00000377632.5 )
SLC4A5 c.2434-214T>C ( ENST00000346834.8, ENST00000358683.8, ENST00000377632.5, ENST00000377634.8, ENST00000394019.7, ENST00000423644.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_133478.3(SLC4A5):c.2434-214T>C AND not provided
- ClinVar Allele ID
- 1225896
- ClinVar RefSeq Alternation Syntax
- NM_021196.3:c.2434-214T>C
- ClinVar RefSeq Alternation Syntax
- NM_133478.3:c.2434-214T>C
- ClinVar RefSeq Alternation Syntax
- NM_001386136.1:c.2086-214T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-02-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001618057
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs