chr1:201364357:G>A Detail (hg38) (TNNT2)

Information

Genome

Assembly Position
hg19 chr1:201,333,485-201,333,485 View the variant detail on this assembly version.
hg38 chr1:201,364,357-201,364,357

HGVS

Type Transcript Protein
RefSeq NM_001001430.2:c.400C>T NP_001001430.1:p.Arg134Trp
NM_001276346.1:c.310C>T NP_001263275.1:p.Arg104Trp
NM_001001431.2:c.397C>T NP_001001431.1:p.Arg133Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv243494777 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2013-06-24 criteria provided, single submitter Primary dilated cardiomyopathy unknown Detail
Likely pathogenic 2023-12-14 criteria provided, single submitter Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2 germline Detail
Likely pathogenic 2023-12-14 criteria provided, single submitter Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2 germline Detail
Likely pathogenic 2023-12-14 criteria provided, single submitter Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2 germline Detail
Uncertain significance 2023-12-01 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Uncertain significance 2022-02-18 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-04-19 criteria provided, single submitter germline Detail
Likely pathogenic 2022-09-05 criteria provided, single submitter dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2 germline Detail
Likely pathogenic 2022-09-05 criteria provided, single submitter dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2 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
Annotation

Annotations

DescrptionSourceLinks
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) AND Primary dilated cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) AND Cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) AND not provided ClinVar Detail
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) AND Cardiovascular phenotype ClinVar Detail
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) AND multiple conditions ClinVar 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
rs45525839 dbSNP
Genome
hg38
Position
chr1:201,364,357-201,364,357
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser