Variant #0000833107 (NC_000019.9:g.38934851C>T, RYR1(NM_000540.2):c.487C>T)

Individual ID 00399055
Chromosome 19
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.38934851C>T
DNA change (hg38) g.38444211C>T
Published as -
ISCN -
DB-ID RYR1_000026 See all 27 reported entries
Variant remarks -
Reference PubMed: Gonzalez-Quereda 2020
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 Johan den Dunnen
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 +?/. - c.487C>T r.(?) p.(Arg163Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000400300 DNA SEQ;SEQ-NG - 166-gene panel - 1 Johan den Dunnen