chr15:63060899:G>A Detail (hg38) (TPM1)

Information

Genome

Assembly Position
hg19 chr15:63,353,098-63,353,098 View the variant detail on this assembly version.
hg38 chr15:63,060,899-63,060,899

HGVS

Type Transcript Protein
RefSeq NM_001018007.1:c.523G>A NP_001018007.1:p.Asp175Asn
NM_000366.5:c.523G>A NP_000357.3:p.Asp175Asn
NM_001330351.1:c.415G>A NP_001317280.1:p.Asp139Asn
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-05-24 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 3 unknown germline Detail
Pathogenic 2015-11-04 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Pathogenic 2023-02-24 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-17 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline unknown Detail
Pathogenic 2023-12-15 criteria provided, single submitter germline Detail
Pathogenic 2022-10-04 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Pathogenic 2016-01-01 criteria provided, single submitter dilated cardiomyopathy 1Y unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.034 hypertrophic cardiomyopathy Effect of hypertrophic cardiomyopathy mutations in human cardiac muscle alpha -t... BeFree 10900175 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
0.001 Hyperlipoproteinemia Type IIa In this work we have (1) used ATPase studies using reconstituted thin filaments ... BeFree 22794249 Detail
0.127 Cardiomyopathies In conclusion, in HCM attributable to the Asp175Asn mutation in the alpha-tropom... BeFree 14734051 Detail
0.127 Cardiomyopathies Rest-stress first-pass MR imaging with gadopentetate dimeglumine was performed i... BeFree 12511681 Detail
0.127 Cardiomyopathies 95 unselected subjects with mild-to-moderate hypertension, 24 patients with HCM ... BeFree 21274714 Detail
0.006 hypertrophic cardiomyopathy In conclusion, in patients with nonobstructive HC attributable to an Asp175Asn m... BeFree 18394456 Detail
0.054 hypertrophic cardiomyopathy Genotype-phenotype correlative studies have implicated 8 particular mutations th... BeFree 12473556 Detail
0.011 hypertrophic cardiomyopathy In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic ... BeFree 24888384 Detail
0.034 hypertrophic cardiomyopathy In contrast, prognosis reflected genotype; near normal life expectancy is found ... BeFree 9060904 Detail
<0.001 Precursor B-cell lymphoblastic leukemia Significance of plasma levels of N-terminal Pro-B-type natriuretic peptide on le... BeFree 18394456 Detail
0.034 hypertrophic cardiomyopathy Significance of plasma levels of N-terminal Pro-B-type natriuretic peptide on le... BeFree 18394456 Detail
0.248 Cardiomyopathy, Hypertrophic, Familial We studied the clinical and genetic features of familial hypertrophic cardiomyop... BeFree 9060904 Detail
0.156 hypertrophic cardiomyopathy Genotype-phenotype correlative studies have implicated 8 particular mutations th... BeFree 12473556 Detail
0.127 Cardiomyopathies The extent of myocardial contractile impairment is strongly and independently re... BeFree 16014439 Detail
0.005 Cardiomyopathies The TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all... BeFree 22462493 Detail
0.034 hypertrophic cardiomyopathy Cine MR imaging of myocardial contractile impairment in patients with hypertroph... BeFree 16014439 Detail
<0.001 Left Ventricular Hypertrophy In HCM attributable to the Asp175Asn mutation in the alpha-tropomyosin gene, myo... BeFree 17556170 Detail
0.248 Cardiomyopathy, Hypertrophic, Familial The results allow us to propose a hypothesis of the pathogenetic changes caused ... BeFree 15031138 Detail
0.034 hypertrophic cardiomyopathy Myocardial perfusion, oxidative metabolism, and free fatty acid uptake in patien... BeFree 17556170 Detail
0.034 hypertrophic cardiomyopathy To assess first-pass magnetic resonance (MR) imaging in the evaluation of perfus... BeFree 12511681 Detail
0.034 hypertrophic cardiomyopathy In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic ... BeFree 24888384 Detail
0.002 Hyperlipoproteinemia Type IIa The haplotypes of three kindreds with FHC due to an alpha-tropomyosin gene mutat... BeFree 9060904 Detail
0.127 Cardiomyopathies In HCM attributable to the Asp175Asn mutation in the alpha-tropomyosin gene, myo... BeFree 17556170 Detail
0.248 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
0.034 hypertrophic cardiomyopathy Inducibility of life-threatening ventricular arrhythmias is related to maximum l... BeFree 14734051 Detail
0.127 Cardiomyopathies The TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all... BeFree 22462493 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) AND Hypertrophic cardiomyopathy 3 ClinVar Detail
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) AND not provided ClinVar Detail
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) AND Cardiovascular phenotype ClinVar Detail
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) AND Cardiomyopathy ClinVar Detail
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) AND Dilated cardiomyopathy 1Y ClinVar Detail
Effect of hypertrophic cardiomyopathy mutations in human cardiac muscle alpha -tropomyosin (Asp175As... 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
In this work we have (1) used ATPase studies using reconstituted thin filaments in solution to show ... DisGeNET Detail
In conclusion, in HCM attributable to the Asp175Asn mutation in the alpha-tropomyosin gene, life-thr... DisGeNET Detail
Rest-stress first-pass MR imaging with gadopentetate dimeglumine was performed in 17 patients with H... DisGeNET Detail
95 unselected subjects with mild-to-moderate hypertension, 24 patients with HCM attributable to the ... DisGeNET Detail
In conclusion, in patients with nonobstructive HC attributable to an Asp175Asn mutation in the alpha... DisGeNET Detail
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophi... DisGeNET Detail
In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM)... DisGeNET Detail
In contrast, prognosis reflected genotype; near normal life expectancy is found in hypertrophic card... DisGeNET Detail
Significance of plasma levels of N-terminal Pro-B-type natriuretic peptide on left ventricular remod... DisGeNET Detail
Significance of plasma levels of N-terminal Pro-B-type natriuretic peptide on left ventricular remod... DisGeNET Detail
We studied the clinical and genetic features of familial hypertrophic cardiomyopathy (FHC) caused by... DisGeNET Detail
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophi... DisGeNET Detail
The extent of myocardial contractile impairment is strongly and independently related to LV mass and... DisGeNET Detail
The TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all HCM cases in the Fi... DisGeNET Detail
Cine MR imaging of myocardial contractile impairment in patients with hypertrophic cardiomyopathy at... DisGeNET Detail
In HCM attributable to the Asp175Asn mutation in the alpha-tropomyosin gene, myocardial oxidative me... DisGeNET Detail
The results allow us to propose a hypothesis of the pathogenetic changes caused by alpha-tropomyosin... DisGeNET Detail
Myocardial perfusion, oxidative metabolism, and free fatty acid uptake in patients with hypertrophic... DisGeNET Detail
To assess first-pass magnetic resonance (MR) imaging in the evaluation of perfusion impairment in a ... DisGeNET Detail
In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM)... DisGeNET Detail
The haplotypes of three kindreds with FHC due to an alpha-tropomyosin gene mutation, Asp175Asn, were... DisGeNET Detail
In HCM attributable to the Asp175Asn mutation in the alpha-tropomyosin gene, myocardial oxidative me... DisGeNET Detail
NA DisGeNET Detail
Inducibility of life-threatening ventricular arrhythmias is related to maximum left ventricular thic... DisGeNET Detail
The TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all HCM cases in the Fi... 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
rs104894503 dbSNP
Genome
hg38
Position
chr15:63,060,899-63,060,899
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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