chr1:201365292:G>A Detail (hg38) (TNNT2)

Information

Genome

Assembly Position
hg19 chr1:201,334,420-201,334,420 View the variant detail on this assembly version.
hg38 chr1:201,365,292-201,365,292

HGVS

Type Transcript Protein
RefSeq NM_001001430.2:c.280C>T NP_001001430.1:p.Arg94Cys
NM_001276346.1:c.291+318C>T
NM_001001431.2:c.277C>T NP_001001431.1:p.Arg93Cys
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 2
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 COSM5469837 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
Likely pathogenic other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2014-01-22 criteria provided, single submitter restrictive cardiomyopathy germline Detail
Pathogenic 2017-08-21 criteria provided, single submitter not provided germline Detail
Pathogenic 2024-01-14 criteria provided, single submitter dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3,hypertrophic cardiomyopathy 2 germline Detail
Pathogenic 2024-01-14 criteria provided, single submitter dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3,hypertrophic cardiomyopathy 2 germline Detail
Pathogenic 2024-01-14 criteria provided, single submitter dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3,hypertrophic cardiomyopathy 2 germline Detail
Pathogenic 2022-04-05 criteria provided, single submitter germline Detail
Pathogenic 2019-09-06 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Likely pathogenic 2023-04-11 criteria provided, single submitter 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
0.240 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) AND Restrictive cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) AND not provided ClinVar Detail
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) AND Cardiovascular phenotype ClinVar Detail
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) AND Hypertrophic cardiomyopathy 2 ClinVar Detail
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) AND Dilated cardiomyopathy 1D ClinVar Detail
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) 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
rs727503513 dbSNP
Genome
hg38
Position
chr1:201,365,292-201,365,292
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser