Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Glu444= (p.E444=)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Glu444= (p.E444=) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.1332G>A (p.Glu444=) AND not provided
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 240002
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.1332G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406756.1:c.1044G>A
- ClinVar RefSeq Alternation Syntax
- NR_176255.1:n.613G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.1044G>A
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.312G>A
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.1332G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.1155G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406757.1:c.1032G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204798.2:c.312G>A
- ClinVar RefSeq Alternation Syntax
- NR_176254.1:n.1740G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-10-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001706245
Drugs