Variant #0000178257 (NC_000001.10:g.201022584C>T, NC_000001.10(NM_000069.2):c.3795+3G>A (CACNA1S))

Individual ID 00110708
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.201022584C>T
DNA change (hg38) g.201053456C>T
Published as -
ISCN -
DB-ID CACNA1S_000013 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00199 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2007-09-18 12:00:00 +02:00 (CEST)
Date last edited 2020-06-05 17:16:25 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CACNA1S NM_000069.2 +/+ 30 c.3795+3G>A r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111174 DNA SEQ - - CACNA1S 3 Johan den Dunnen


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.