chr15:63353114:A>T Detail (hg19) (TPM1)

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

Genome

Assembly	Position
hg19	chr15:63,353,114-63,353,114
hg38	chr15:63,060,915-63,060,915 View the variant detail on this assembly version.

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001018005.1:c.539A>T	NP_001018005.1:p.Glu180Val
	NM_001301244.1:c.539A>T	NP_001288173.1:p.Glu180Val
	NM_000366.5:c.539A>T	NP_000357.3:p.Glu180Val
	NM_001301289.1:c.431A>T	NP_001288218.1:p.Glu144Val
	NM_001330346.1:c.431A>T	NP_001317275.1:p.Glu144Val
	NM_001018020.1:c.539A>T	NP_001018020.1:p.Glu180Val
	NM_001018008.1:c.431A>T	NP_001018008.1:p.Glu144Val
	NM_001018007.1:c.539A>T	NP_001018007.1:p.Glu180Val
	NM_001330351.1:c.431A>T	NP_001317280.1:p.Glu144Val
	NM_001018004.1:c.539A>T	NP_001018004.1:p.Glu180Val
	NM_001018006.1:c.539A>T	NP_001018006.1:p.Glu180Val
Ensemble	ENST00000651704.1:c.161A>T	ENST00000651704.1:p.Glu54Val
	ENST00000560615.6:c.161A>T	ENST00000560615.6:p.Glu54Val
	ENST00000403994.9:c.539A>T	ENST00000403994.9:p.Glu180Val
	ENST00000288398.10:c.539A>T	ENST00000288398.10:p.Glu180Val
	ENST00000404484.9:c.431A>T	ENST00000404484.9:p.Glu144Val
	ENST00000559281.6:c.431A>T	ENST00000559281.6:p.Glu144Val
	ENST00000714014.1:c.539A>T	ENST00000714014.1:p.Glu180Val
	ENST00000559397.6:c.539A>T	ENST00000559397.6:p.Glu180Val
	ENST00000357980.9:c.665A>T	ENST00000357980.9:p.Glu222Val
	ENST00000714013.1:c.665A>T	ENST00000714013.1:p.Glu222Val
	ENST00000651577.1:c.161A>T	ENST00000651577.1:p.Glu54Val
	ENST00000560970.6:c.539A>T	ENST00000560970.6:p.Glu180Val
	ENST00000558910.3:c.431A>T	ENST00000558910.3:p.Glu144Val
	ENST00000334895.10:c.431A>T	ENST00000334895.10:p.Glu144Val
	ENST00000714017.1:c.539A>T	ENST00000714017.1:p.Glu180Val
	ENST00000267996.11:c.539A>T	ENST00000267996.11:p.Glu180Val
	ENST00000317516.12:c.431A>T	ENST00000317516.12:p.Glu144Val
	ENST00000559556.5:c.539A>T	ENST00000559556.5:p.Glu180Val
	ENST00000560959.5:c.431A>T	ENST00000560959.5:p.Glu144Val
	ENST00000358278.7:c.539A>T	ENST00000358278.7:p.Glu180Val
	ENST00000561266.6:c.539A>T	ENST00000561266.6:p.Glu180Val

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

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
not provided	2012-04-15	no assertion provided	not provided	germline	Detail
Likely pathogenic	2022-01-28	criteria provided, single submitter	hypertrophic cardiomyopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.034	hypertrophic cardiomyopathy	Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (H...	BeFree	16043485	Detail
0.034	hypertrophic cardiomyopathy	Effect of hypertrophic cardiomyopathy mutations in human cardiac muscle alpha -t...	BeFree	10900175	Detail
0.034	hypertrophic cardiomyopathy	We used an HCM mouse model with an E180G mutation in α-tropomyosin (Tm180) that ...	BeFree	24585742	Detail
0.360	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)	NA	CLINVAR		Detail
0.034	hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy-causing Asp175asn and Glu180gly Tpm1 mutations shift...	BeFree	21376702	Detail
0.002	Cardiomyopathies	To understand how the HCM-causing Asp175Asn and Glu180Gly mutations in α-tropomy...	BeFree	22155441	Detail
0.002	Hyperlipoproteinemia Type IIa	The long-range decreases in dynamic stability due to these two single-site mutat...	BeFree	22794249	Detail
0.248	Cardiomyopathy, Hypertrophic, Familial	Cardiac α-tropomyosin (Tm) single-site mutations D175N and E180G cause familial ...	BeFree	22794249	Detail
0.127	Cardiomyopathies	To understand how the HCM-causing Asp175Asn and Glu180Gly mutations in α-tropomy...	BeFree	22155441	Detail
0.248	Cardiomyopathy, Hypertrophic, Familial	The familial hypertrophic cardiomyopathy mutation αTm E180G enhances Ca(2+)-sens...	BeFree	22958892	Detail
<0.001	Observation of Neuromuscular Block	Hypertrophic cardiomyopathy mutations A63V and E180G in alpha-tropomyosin (alpha...	BeFree	15059934	Detail
0.002	Hyperlipoproteinemia Type IIa	In addition, because diastolic dysfunction in E180G Tm mice is dependent on inot...	BeFree	12169652	Detail
0.001	Hyperlipoproteinemia Type IIa	In this work we have (1) used ATPase studies using reconstituted thin filaments ...	BeFree	22794249	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001018005.2(TPM1):c.539A>T (p.Glu180Val) AND not provided	ClinVar	Detail
NM_001018005.2(TPM1):c.539A>T (p.Glu180Val) AND Hypertrophic cardiomyopathy	ClinVar	Detail
Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (HCM) mutations E62Q, ...	DisGeNET	Detail
Effect of hypertrophic cardiomyopathy mutations in human cardiac muscle alpha -tropomyosin (Asp175As...	DisGeNET	Detail
We used an HCM mouse model with an E180G mutation in α-tropomyosin (Tm180) that demonstrates increas...	DisGeNET	Detail
NA	DisGeNET	Detail
Hypertrophic cardiomyopathy-causing Asp175asn and Glu180gly Tpm1 mutations shift tropomyosin strands...	DisGeNET	Detail
To understand how the HCM-causing Asp175Asn and Glu180Gly mutations in α-tropomyosin affect on actin...	DisGeNET	Detail
The long-range decreases in dynamic stability due to these two single-site mutations suggest increas...	DisGeNET	Detail
Cardiac α-tropomyosin (Tm) single-site mutations D175N and E180G cause familial hypertrophic cardiom...	DisGeNET	Detail
To understand how the HCM-causing Asp175Asn and Glu180Gly mutations in α-tropomyosin affect on actin...	DisGeNET	Detail
The familial hypertrophic cardiomyopathy mutation αTm E180G enhances Ca(2+)-sensitivity in functiona...	DisGeNET	Detail
Hypertrophic cardiomyopathy mutations A63V and E180G in alpha-tropomyosin (alpha-Tm) have been shown...	DisGeNET	Detail
In addition, because diastolic dysfunction in E180G Tm mice is dependent on inotropic status, cardio...	DisGeNET	Detail
In this work we have (1) used ATPase studies using reconstituted thin filaments in solution to show ...	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: rs104894502 dbSNP
Genome: hg19
Position: chr15:63,353,114-63,353,114
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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