chr19:39074134:A>G Detail (hg19) (RYR1)

Information

Genome

Assembly Position
hg19 chr19:39,074,134-39,074,134
hg38 chr19:38,583,494-38,583,494 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001042723.1:c.14632-1449A>G
NM_000540.2:c.14647-1449A>G
Ensemble ENST00000355481.8:c.14632-1449A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-05-15 no assertion criteria provided Congenital multicore myopathy with external ophthalmoplegia germline Detail
not provided no assertion provided not provided unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.560 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000540.2(RYR1):c.14647-1449A>G AND Congenital multicore myopathy with external ophthalmoplegia ClinVar Detail
NM_000540.2(RYR1):c.14647-1449A>G AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs193922886 dbSNP
Genome
hg19
Position
chr19:39,074,134-39,074,134
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser