Variant #0000453890 (NC_000019.9:g.38933120G>A, RYR1(NM_000540.2):c.270+27G>A)

Chromosome 19
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.38933120G>A
DNA change (hg38) g.38442480G>A
Published as g.43624690A>G
ISCN -
DB-ID RYR1_000329
Variant remarks -
Reference PubMed: Robinson 2006
ClinVar ID -
dbSNP ID rs3745843
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.15549 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RYR1 NM_000540.2 -/. 2i c.270+27G>A r.(=) p.(=)