chr1:201333497:G>A Detail (hg19) (TNNT2)

Information

Genome

Assembly Position
hg19 chr1:201,333,497-201,333,497
hg38 chr1:201,364,369-201,364,369 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001001430.2:c.388C>T NP_001001430.1:p.Arg130Cys
NM_001276347.1:c.388C>T NP_001263276.1:p.Arg130Cys
NM_001001431.2:c.385C>T NP_001001431.1:p.Arg129Cys
Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-02-01 criteria provided, single submitter hypertrophic cardiomyopathy germline Detail
Pathogenic 2022-06-23 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2015-11-27 criteria provided, single submitter germline Detail
Pathogenic 2023-12-12 criteria provided, multiple submitters, no conflicts dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3 germline unknown Detail
Pathogenic 2023-12-12 criteria provided, multiple submitters, no conflicts dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3 germline unknown Detail
Pathogenic 2023-12-12 criteria provided, multiple submitters, no conflicts dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2,Cardiomyopathy, familial restrictive, 3 germline unknown Detail
Pathogenic Likely pathogenic 2023-05-16 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Pathogenic Likely pathogenic 2023-04-11 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 2 germline Detail
Likely pathogenic 2023-04-11 criteria provided, single submitter dilated cardiomyopathy 1D germline Detail
Likely 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, Familial Hypertrophic, 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND not provided ClinVar Detail
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND Cardiovascular phenotype ClinVar Detail
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND Cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND Hypertrophic cardiomyopathy 2 ClinVar Detail
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND Dilated cardiomyopathy 1D ClinVar Detail
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) AND Cardiomyopathy, familial restrictive, 3 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
rs397516463 dbSNP
Genome
hg19
Position
chr1:201,333,497-201,333,497
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser