chr1:201365220:C>T Detail (hg38) (TNNT2)

Information

Genome

Assembly Position
hg19 chr1:201,334,348-201,334,348 View the variant detail on this assembly version.
hg38 chr1:201,365,220-201,365,220

HGVS

Type Transcript Protein
RefSeq NM_001001430.2:c.352G>A NP_001001430.1:p.Glu118Lys
NM_001276346.1:c.291+390G>A
NM_001001431.2:c.349G>A NP_001001431.1:p.Glu117Lys
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 2013-01-14 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.382G>A (p.Glu128Lys) 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
rs397516461 dbSNP
Genome
hg38
Position
chr1:201,365,220-201,365,220
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser