Annotation Detail
Information
- Associated Genes
- CACNA1C
- Associated Variants
-
CACNA1C p.Arg1187Gln (p.R1187Q)
(
ENST00000399617.6,
ENST00000399637.5,
ENST00000682336.1,
ENST00000399606.5,
ENST00000399603.6,
ENST00000682462.1,
ENST00000399641.6,
ENST00000335762.10,
ENST00000399634.6,
ENST00000683824.1,
ENST00000327702.12,
ENST00000399629.5,
ENST00000399591.5,
ENST00000399595.5,
ENST00000683781.1,
ENST00000399644.5,
ENST00000682544.1,
ENST00000682835.1,
ENST00000347598.9,
ENST00000683482.1,
ENST00000399649.5,
ENST00000399655.6,
ENST00000683840.1,
ENST00000399597.5,
ENST00000399621.5,
ENST00000682686.1,
ENST00000399638.5,
ENST00000683956.1,
ENST00000402845.7,
ENST00000344100.7,
ENST00000399601.5,
ENST00000406454.8 )
CACNA1C p.Arg1187Gln (p.R1187Q) ( ENST00000327702.12, ENST00000335762.10, ENST00000344100.7, ENST00000347598.9, ENST00000399591.5, ENST00000399595.5, ENST00000399597.5, ENST00000399601.5, ENST00000399603.6, ENST00000399606.5, ENST00000399617.6, ENST00000399621.5, ENST00000399629.5, ENST00000399634.6, ENST00000399637.5, ENST00000399638.5, ENST00000399641.6, ENST00000399644.5, ENST00000399649.5, ENST00000399655.6, ENST00000402845.7, ENST00000406454.8, ENST00000682336.1, ENST00000682462.1, ENST00000682544.1, ENST00000682686.1, ENST00000682835.1, ENST00000683482.1, ENST00000683781.1, ENST00000683824.1, ENST00000683840.1, ENST00000683956.1 ) - Associated Disease
- long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) AND Long QT syndrome
- ClinVar Allele ID
- 177402
- ClinVar RefSeq Alternation Syntax
- NM_001129844.2:c.3551G>A
- ClinVar RefSeq Alternation Syntax
- NM_001167624.3:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129840.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129827.2:c.3620G>A
- ClinVar RefSeq Alternation Syntax
- NM_000719.7:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129835.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129846.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129834.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129836.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129833.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129837.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129843.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_199460.4:c.3620G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129831.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129839.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129830.3:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129841.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129842.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129838.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001167623.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001167625.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129829.2:c.3560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001129832.2:c.3620G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-02-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001036828
- ClinVar Disease
- Long QT syndrome
- Observed Origin Sample
- germline
Drugs