chr1:201365261:G>A Detail (hg38) (TNNT2)

Information

Genome

Assembly Position
hg19 chr1:201,334,389-201,334,389 View the variant detail on this assembly version.
hg38 chr1:201,365,261-201,365,261

HGVS

Type Transcript Protein
RefSeq NM_001001430.2:c.311C>T NP_001001430.1:p.Ala104Val
NM_001276346.1:c.291+349C>T
NM_001001431.2:c.308C>T NP_001001431.1:p.Ala103Val
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 tgv243494805 TogoVar
COSMIC COSM4735047 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other unknown MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic hypertrophic cardiomyopathy germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-28 criteria provided, single submitter Cardiomyopathy, familial restrictive, 3,hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D germline Detail
Pathogenic 2024-01-28 criteria provided, single submitter Cardiomyopathy, familial restrictive, 3,hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D germline Detail
Pathogenic 2024-01-28 criteria provided, single submitter Cardiomyopathy, familial restrictive, 3,hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D germline Detail
Likely pathogenic criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Uncertain significance 2022-02-04 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Uncertain significance 2023-12-13 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Uncertain significance 2016-01-01 criteria provided, single submitter dilated cardiomyopathy 1D unknown Detail
Uncertain significance no assertion criteria provided not provided germline Detail
Uncertain significance criteria provided, single submitter hypertrophic cardiomyopathy 2 unknown Detail
Uncertain significance 2023-06-21 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 Cardiomyopathy, Familial Hypertrophic, 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) AND multiple conditions ClinVar Detail
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) AND Cardiomyopathy ClinVar Detail
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) AND Dilated cardiomyopathy 1D ClinVar Detail
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) AND not provided ClinVar Detail
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) AND Hypertrophic cardiomyopathy 2 ClinVar Detail
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) 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
rs727504245 dbSNP
Genome
hg38
Position
chr1:201,365,261-201,365,261
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121400
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.237232289950576E-6
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