chr11:47338519:C>A Detail (hg38) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,360,070-47,360,070 View the variant detail on this assembly version.
hg38 chr11:47,338,519-47,338,519

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.2308+1G>T
Ensemble ENST00000399249.6:c.2308+1G>T
ENST00000545968.6:c.2308+1G>T
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 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
Pathogenic 2023-10-19 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-10-07 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 Cardiomyopathy, Familial Hypertrophic, 4 NA CLINVAR Detail
0.247 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000256.3(MYBPC3):c.2308+1G>T AND not provided ClinVar Detail
NM_000256.3(MYBPC3):c.2308+1G>T AND Hypertrophic cardiomyopathy ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs112738974 dbSNP
Genome
hg38
Position
chr11:47,338,519-47,338,519
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser