Variant #0000453595 (NC_000019.9:g.38934252C>T, RYR1(NM_000540.2):c.325C>T)

Individual ID 00217854
Chromosome 19
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.38934252C>T
DNA change (hg38) g.38443612C>T
Published as -
ISCN -
DB-ID RYR1_000280 See all 8 reported entries
Variant remarks -
Reference PubMed: Jungbluth 2005; PubMed: Zhou 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
Owner Jorge Oliveira
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RYR1 NM_000540.2 +/. 4 c.325C>T r.325c>u p.Arg109Trp



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000218924 RNA RT-PCR;SEQ - - RYR1 3 Jorge Oliveira