chr19:38580403:G>A Detail (hg38) (RYR1)

Information

Genome

Assembly Position
hg19 chr19:39,071,043-39,071,043 View the variant detail on this assembly version.
hg38 chr19:38,580,403-38,580,403

HGVS

Type Transcript Protein
RefSeq NM_001042723.1:c.14530G>A NP_001036188.1:p.Val4844Ile
NM_000540.2:c.14545G>A NP_000531.2:p.Val4849Ile
Ensemble ENST00000355481.8:c.14530G>A ENST00000355481.8:p.Val4844Ile
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance drug response
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
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic other unknown MGS000074
(TMGS000150) 		Kenjiro Kosaki
Nishino Ichizo		 Keio University
National Center of Neurology and Psychiatry
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2008-05-01 no assertion criteria provided Central core disease, autosomal recessive germline Detail
Pathogenic 2008-05-01 no assertion criteria provided Congenital multicore myopathy with external ophthalmoplegia germline Detail
Pathogenic 2023-03-23 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-03-29 criteria provided, multiple submitters, no conflicts Malignant hyperthermia, susceptibility to, 1 germline unknown Detail
Pathogenic 2024-01-19 criteria provided, multiple submitters, no conflicts RYR1-related disorder germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
Pathogenic 2020-06-11 criteria provided, single submitter Malignant hyperthermia of anesthesia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.560 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) NA CLINVAR Detail
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.14545G>A (p.Val4849Ile) AND Central core disease, autosomal recessive ClinVar Detail
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) AND Congenital multicore myopathy with external ophthalm... ClinVar Detail
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) AND not provided ClinVar Detail
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) AND Malignant hyperthermia, susceptibility to, 1 ClinVar Detail
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) AND RYR1-related disorder ClinVar Detail
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) AND desflurane response - Toxicity ClinVar Detail
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) AND enflurane response - Toxicity ClinVar Detail
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) AND halothane response - Toxicity ClinVar Detail
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) AND isoflurane response - Toxicity ClinVar Detail
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) AND methoxyflurane response - Toxicity ClinVar Detail
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) AND sevoflurane response - Toxicity ClinVar Detail
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) AND succinylcholine response - Toxicity ClinVar Detail
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) AND Malignant hyperthermia of anesthesia ClinVar Detail
NA DisGeNET 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
rs118192168 dbSNP
Genome
hg38
Position
chr19:38,580,403-38,580,403
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8648
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)
121160
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.253549026081216E-6
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