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

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

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

TPM1

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
	NM_001018006.1:c.515T>C	NP_001018006.1:p.Ile172Thr
	NM_001018008.1:c.407T>C	NP_001018008.1:p.Ile136Thr
	NM_001018020.1:c.515T>C	NP_001018020.1:p.Ile172Thr
	NM_000366.5:c.515T>C	NP_000357.3:p.Ile172Thr
	NM_001018005.1:c.515T>C	NP_001018005.1:p.Ile172Thr
	NM_001301244.1:c.515T>C	NP_001288173.1:p.Ile172Thr
	NM_001330346.1:c.407T>C	NP_001317275.1:p.Ile136Thr
	NM_001301289.1:c.407T>C	NP_001288218.1:p.Ile136Thr
Ensemble	ENST00000317516.12:c.407T>C	ENST00000317516.12:p.Ile136Thr
	ENST00000714017.1:c.515T>C	ENST00000714017.1:p.Ile172Thr
	ENST00000267996.11:c.515T>C	ENST00000267996.11:p.Ile172Thr
	ENST00000559556.5:c.515T>C	ENST00000559556.5:p.Ile172Thr
	ENST00000560959.5:c.407T>C	ENST00000560959.5:p.Ile136Thr
	ENST00000358278.7:c.515T>C	ENST00000358278.7:p.Ile172Thr
	ENST00000561266.6:c.515T>C	ENST00000561266.6:p.Ile172Thr
	ENST00000558910.3:c.407T>C	ENST00000558910.3:p.Ile136Thr
	ENST00000560970.6:c.515T>C	ENST00000560970.6:p.Ile172Thr
	ENST00000334895.10:c.407T>C	ENST00000334895.10:p.Ile136Thr
	ENST00000357980.9:c.641T>C	ENST00000357980.9:p.Ile214Thr
	ENST00000559397.6:c.515T>C	ENST00000559397.6:p.Ile172Thr
	ENST00000714014.1:c.515T>C	ENST00000714014.1:p.Ile172Thr
	ENST00000651577.1:c.137T>C	ENST00000651577.1:p.Ile46Thr
	ENST00000714013.1:c.641T>C	ENST00000714013.1:p.Ile214Thr
	ENST00000288398.10:c.515T>C	ENST00000288398.10:p.Ile172Thr
	ENST00000403994.9:c.515T>C	ENST00000403994.9:p.Ile172Thr
	ENST00000560615.6:c.137T>C	ENST00000560615.6:p.Ile46Thr
	ENST00000651704.1:c.137T>C	ENST00000651704.1:p.Ile46Thr
	ENST00000559281.6:c.407T>C	ENST00000559281.6:p.Ile136Thr
	ENST00000404484.9:c.407T>C	ENST00000404484.9:p.Ile136Thr

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

TPM1

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

Descrption	Source	Links
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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