chr1:201365298:G>A Detail (hg38) (TNNT2)

Information

Genome

Assembly Position
hg19 chr1:201,334,426-201,334,426 View the variant detail on this assembly version.
hg38 chr1:201,365,298-201,365,298

HGVS

Type Transcript Protein
RefSeq NM_001001430.2:c.274C>T NP_001001430.1:p.Arg92Trp
NM_001276346.1:c.291+312C>T
NM_001001431.2:c.271C>T NP_001001431.1:p.Arg91Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 191045 OMIM
HGNC 11949 HGNC
Ensembl ENSG00000118194 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv243494807 TogoVar
COSMIC COSM4026926 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 2022-10-28 criteria provided, single submitter not provided germline Detail
Pathogenic 2015-11-05 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3 germline unknown Detail
Pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3 germline unknown Detail
Pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3 germline unknown Detail
Pathogenic 2022-05-02 criteria provided, single submitter germline Detail
Pathogenic 2023-04-10 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Pathogenic 2023-04-11 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 2 germline Detail
Pathogenic 2023-04-11 criteria provided, single submitter dilated cardiomyopathy 1D germline Detail
Pathogenic 2023-04-11 criteria provided, single submitter Cardiomyopathy, familial restrictive, 3 germline Detail
Pathogenic 2023-03-01 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Pathogenic 2024-03-12 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2024-03-12 criteria provided, single submitter beta thalassemia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 Cardiomyopathy, Familial Hypertrophic, 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) AND not provided ClinVar Detail
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) AND Cardiovascular phenotype ClinVar Detail
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) AND Hypertrophic cardiomyopathy 2 ClinVar Detail
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) AND Dilated cardiomyopathy 1D ClinVar Detail
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) AND Cardiomyopathy, familial restrictive, 3 ClinVar Detail
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) AND Cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) AND beta Thalassemia 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
rs397516456 dbSNP
Genome
hg38
Position
chr1:201,365,298-201,365,298
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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)
121396
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)
8.237503706876667E-6
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