chr11:47335104:T>G Detail (hg38) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,356,655-47,356,655 View the variant detail on this assembly version.
hg38 chr11:47,335,104-47,335,104

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.2843A>C NP_000247.2:p.Asn948Thr
Ensemble ENST00000399249.6:c.2843A>C ENST00000399249.6:p.Asn948Thr
ENST00000545968.6:c.2843A>C ENST00000545968.6:p.Asn948Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 600958 OMIM
HGNC 7551 HGNC
Ensembl ENSG00000134571 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
Uncertain significance 2021-07-26 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic 2002-10-18 no assertion criteria provided Cardiomyopathy, dilated, 1MM germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Left ventricular noncompaction 10 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000256.3(MYBPC3):c.2843A>C (p.Asn948Thr) AND Cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.2843A>C (p.Asn948Thr) AND Cardiomyopathy, dilated, 1MM 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
rs121909376 dbSNP
Genome
hg38
Position
chr11:47,335,104-47,335,104
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser