chr11:47337456:A>T Detail (hg38) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,359,007-47,359,007 View the variant detail on this assembly version.
hg38 chr11:47,337,456-47,337,456

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.2537T>A NP_000247.2:p.Val846Asp
Ensemble ENST00000399249.6:c.2537T>A ENST00000399249.6:p.Val846Asp
ENST00000545968.6:c.2537T>A ENST00000545968.6:p.Val846Asp
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 2016-08-09 criteria provided, single submitter not specified germline Detail
Uncertain significance 2019-10-18 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.247 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000256.3(MYBPC3):c.2537T>A (p.Val846Asp) AND not specified ClinVar Detail
NM_000256.3(MYBPC3):c.2537T>A (p.Val846Asp) AND not provided 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
rs193922379 dbSNP
Genome
hg38
Position
chr11:47,337,456-47,337,456
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser