chr1:201334738:A>C Detail (hg19) (TNNT2)

Information

Genome

Assembly Position
hg19 chr1:201,334,738-201,334,738
hg38 chr1:201,365,610-201,365,610 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001276347.1:c.264T>G NP_001263276.1:p.Asp88Glu
NM_001001431.2:c.261T>G NP_001001431.1:p.Asp87Glu
NM_001276346.1:c.291T>G NP_001263275.1:p.Asp97Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-06-04 criteria provided, single submitter Primary dilated cardiomyopathy 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.294T>G (p.Asp98Glu) AND Primary dilated cardiomyopathy 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
rs397516454 dbSNP
Genome
hg19
Position
chr1:201,334,738-201,334,738
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Genome browser