Variant #0000453758 (NC_000019.9:g.38924504_38924506delinsCG, RYR1(NM_000540.2):c.35_37delinsCG)

Individual ID 00217971
Chromosome 19
Allele Maternal (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.38924504_38924506delinsCG
DNA change (hg38) g.38433864_38433866delinsCG
Published as 34del, 37C>G
ISCN -
DB-ID RYR1_000323
Variant remarks low expression at mRNA level
Reference PubMed: Monnier 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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 +/. 1 c.35_37delinsCG r.35_37delinscg p.Phe12Serfs*106



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219041 DNA;RNA RT-PCR; SEQ - - RYR1 2 Jorge Oliveira