chr19:38466216:G>A Detail (hg38) (RYR1)

Information

Genome

Assembly Position
hg19 chr19:38,956,856-38,956,856 View the variant detail on this assembly version.
hg38 chr19:38,466,216-38,466,216

HGVS

Type Transcript Protein
RefSeq NM_001042723.1:c.2996G>A NP_001036188.1:p.Arg999His
NM_000540.2:c.2996G>A NP_000531.2:p.Arg999His
Ensemble ENST00000355481.8:c.2996G>A ENST00000355481.8:p.Arg999His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 180901 OMIM
HGNC 10483 HGNC
Ensembl ENSG00000196218 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62014287 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-04-25 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance 2023-04-06 reviewed by expert panel Malignant hyperthermia, susceptibility to, 1 germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Neuromuscular disease, congenital, with uniform type 1 fiber germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Congenital multicore myopathy with external ophthalmoplegia germline Detail
Conflicting interpretations of pathogenicity 2024-03-26 criteria provided, conflicting interpretations Central core myopathy germline paternal Detail
Uncertain significance 2022-07-19 criteria provided, single submitter RYR1-related disorder germline Detail
Uncertain significance 2021-09-15 criteria provided, single submitter King Denborough syndrome,Central core myopathy,Congenital multicore myopathy with external ophthalmoplegia,Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion unknown Detail
Uncertain significance 2021-09-15 criteria provided, single submitter King Denborough syndrome,Central core myopathy,Congenital multicore myopathy with external ophthalmoplegia,Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion unknown Detail
Uncertain significance 2021-09-15 criteria provided, single submitter King Denborough syndrome,Central core myopathy,Congenital multicore myopathy with external ophthalmoplegia,Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion unknown Detail
Uncertain significance 2021-09-15 criteria provided, single submitter King Denborough syndrome,Central core myopathy,Congenital multicore myopathy with external ophthalmoplegia,Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion unknown Detail
Uncertain significance 2021-09-15 criteria provided, single submitter King Denborough syndrome,Central core myopathy,Congenital multicore myopathy with external ophthalmoplegia,Malignant hyperthermia, susceptibility to, 1,Congenital myopathy with fiber type disproportion unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Multi-core congenital myopathy In the present paper, we show, for the first time, data on the functional effect... BeFree 16372898 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) AND not provided ClinVar Detail
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) AND Malignant hyperthermia, susceptibility to, 1 ClinVar Detail
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) AND Neuromuscular disease, congenital, with uniform type 1... ClinVar Detail
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) AND Congenital multicore myopathy with external ophthalmop... ClinVar Detail
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) AND Central core myopathy ClinVar Detail
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) AND RYR1-related disorder ClinVar Detail
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) AND multiple conditions ClinVar Detail
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) AND multiple conditions ClinVar Detail
In the present paper, we show, for the first time, data on the functional effect of two recently ide... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs180714609 dbSNP
Genome
hg38
Position
chr19:38,466,216-38,466,216
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs180714609
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8494
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
118034
Allele Counts in All Race (ExAC)
13
Heterozygous Counts in All Race (ExAC)
13
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.1013775691749834E-4
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