chr1:201333464:G>A Detail (hg19) (TNNT2)

Information

Genome

Assembly Position
hg19 chr1:201,333,464-201,333,464
hg38 chr1:201,364,336-201,364,336 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001276347.1:c.421C>T NP_001263276.1:p.Arg141Trp
NM_001001431.2:c.418C>T NP_001001431.1:p.Arg140Trp
NM_001276346.1:c.331C>T NP_001263275.1:p.Arg111Trp
Summary

MGeND

Clinical significance
Variant entry
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 191045 OMIM
HGNC 11949 HGNC
Ensembl ENSG00000118194 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
Pathogenic 2023-04-11 criteria provided, multiple submitters, no conflicts dilated cardiomyopathy 1D germline Detail
Pathogenic 2014-08-04 no assertion criteria provided Primary dilated cardiomyopathy germline Detail
Pathogenic 2023-01-23 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2015-05-12 criteria provided, single submitter Primary dilated cardiomyopathy,hypertrophic cardiomyopathy germline Detail
Pathogenic 2015-05-12 criteria provided, single submitter Primary dilated cardiomyopathy,hypertrophic cardiomyopathy germline Detail
Pathogenic 2023-08-17 criteria provided, single submitter hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 germline Detail
Pathogenic 2023-08-17 criteria provided, single submitter hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 germline Detail
Pathogenic 2023-08-17 criteria provided, single submitter hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 germline Detail
Pathogenic 2018-04-20 criteria provided, single submitter Familial isolated dilated cardiomyopathy de novo Detail
Pathogenic 2023-06-23 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Pathogenic 2021-03-23 criteria provided, single submitter TNNT2 -related cardiomyopathies de novo Detail
Pathogenic 2023-10-30 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 2 germline unknown Detail
Pathogenic 2023-04-11 criteria provided, single submitter Cardiomyopathy, familial restrictive, 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 CARDIOMYOPATHY, DILATED, 1D (disorder) NA CLINVAR Detail
0.256 Cardiomyopathy, Dilated NA CLINVAR Detail
0.440 Cardiomyopathy, Familial Hypertrophic, 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND Dilated cardiomyopathy 1D ClinVar Detail
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND Primary dilated cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND not provided ClinVar Detail
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND Familial isolated dilated cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND Cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND TNNT2 -related cardiomyopathies ClinVar Detail
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND Hypertrophic cardiomyopathy 2 ClinVar Detail
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) AND Cardiomyopathy, familial restrictive, 3 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET 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
rs74315379 dbSNP
Genome
hg19
Position
chr1:201,333,464-201,333,464
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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