chr10:112581123:G>A Detail (hg19) (RBM20)

Information

Genome

Assembly Position
hg19 chr10:112,581,123-112,581,123
hg38 chr10:110,821,365-110,821,365 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001134363.2:c.2746G>A NP_001127835.2:p.Glu916Lys
Ensemble ENST00000369519.4:c.2746G>A ENST00000369519.4:p.Glu916Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 613171 OMIM
HGNC 27424 HGNC
Ensembl ENSG00000203867 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
Likely pathogenic 2014-05-09 criteria provided, single submitter Primary dilated cardiomyopathy germline Detail
Uncertain significance 2021-11-09 criteria provided, single submitter dilated cardiomyopathy 1DD germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Cardiomyopathy, Dilated, 1DD NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys) AND Primary dilated cardiomyopathy ClinVar Detail
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys) AND Dilated cardiomyopathy 1DD ClinVar Detail
NA 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
rs727504859 dbSNP
Genome
hg19
Position
chr10:112,581,123-112,581,123
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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