Variant #0000170691 (NC_000019.9:g.38933074C>T, RYR1(NM_000540.2):c.251C>T)

Individual ID 00104870
Chromosome 19
Allele Unknown
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.38933074C>T
DNA change (hg38) g.38442434C>T
Published as -
ISCN -
DB-ID RYR1_000610 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Toshimichi Yasuda
Database submission license No license selected
Created by Toshimichi Yasuda
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RYR1 NM_000540.2 +/. 3 c.251C>T r.(?) p.(Thr84Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105344 DNA SEQ-NG-IT - - RYR1 1 Toshimichi Yasuda