chr15:63060935:G>C Detail (hg38) (TPM1)

Information

Genome

Assembly Position
hg19 chr15:63,353,134-63,353,134 View the variant detail on this assembly version.
hg38 chr15:63,060,935-63,060,935

HGVS

Type Transcript Protein
RefSeq NM_001018007.1:c.559G>C NP_001018007.1:p.Glu187Gln
NM_000366.5:c.559G>C NP_000357.3:p.Glu187Gln
NM_001330351.1:c.451G>C NP_001317280.1:p.Glu151Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 191010 OMIM
HGNC 12010 HGNC
Ensembl ENSG00000140416 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 2013-02-08 no assertion criteria provided hypertrophic cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001018005.2(TPM1):c.559G>C (p.Glu187Gln) AND Hypertrophic cardiomyopathy 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
rs727504264 dbSNP
Genome
hg38
Position
chr15:63,060,935-63,060,935
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser