chr1:201365656:T>C Detail (hg38) (TNNT2)

Information

Genome

Assembly Position
hg19 chr1:201,334,784-201,334,784 View the variant detail on this assembly version.
hg38 chr1:201,365,656-201,365,656

HGVS

Type Transcript Protein
RefSeq NM_001001430.2:c.218A>G NP_001001430.1:p.Asn73Ser
NM_001276346.1:c.245A>G NP_001263275.1:p.Asn82Ser
NM_001001431.2:c.215A>G NP_001001431.1:p.Asn72Ser
Summary

MGeND

Clinical significance
Variant entry
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 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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2017-10-05 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-10-13 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 germline Detail
Uncertain significance 2023-10-13 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 germline Detail
Uncertain significance 2023-10-13 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3 germline Detail
Uncertain significance 2024-01-11 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Likely pathogenic 2017-06-29 criteria provided, single submitter dilated cardiomyopathy 1D germline Detail
Uncertain significance 2019-12-06 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 CARDIOMYOPATHY, DILATED, 1D (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) AND not specified ClinVar Detail
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) AND Cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) AND Dilated cardiomyopathy 1D ClinVar Detail
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) AND Cardiovascular phenotype 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
rs397516450 dbSNP
Genome
hg38
Position
chr1:201,365,656-201,365,656
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8604
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)
117138
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.707387867301815E-5
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