Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Val822Leu (p.V822L)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Val822Leu (p.V822L) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.2464G>C (p.Val822Leu) AND not provided
- ClinVar Allele ID
- 197199
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.2176G>C
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.1444G>C
- ClinVar RefSeq Alternation Syntax
- NR_176254.1:n.2872G>C
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.2464G>C
- ClinVar RefSeq Alternation Syntax
- NR_176255.1:n.1745G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-06-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000181866
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs