chr15:63353090:T>C Detail (hg19) (TPM1)

Information

Genome

Assembly Position
hg19 chr15:63,353,090-63,353,090
hg38 chr15:63,060,891-63,060,891 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001330351.1:c.407T>C NP_001317280.1:p.Ile136Thr
NM_001018007.1:c.515T>C NP_001018007.1:p.Ile172Thr
NM_001018004.1:c.515T>C NP_001018004.1:p.Ile172Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
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
Uncertain significance 2018-05-31 criteria provided, single submitter not provided germline Detail
Uncertain significance 2017-03-21 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Uncertain significance 2023-06-15 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.248 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) AND not provided ClinVar Detail
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) 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
rs199476312 dbSNP
Genome
hg19
Position
chr15:63,353,090-63,353,090
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121332
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.241848811525402E-6
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