View genomic variant #0000001685

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.201328764C>T
Published as -
GERP 4.070
Segregation -
DB-ID TNNT2_000012
MSCV MSCV_0001685
dbSNP ID rs121964861
Frequency -
Sources ; clinvar;
Reference 15542288
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
TNNT2 00003241 NM_000364.2 0000001685 +/+ c.829G>A p.(Asp277Asn) missense_variant - 15/16 - r.(?) -
TNNT2 00003346 NM_000364.3 0000001685 +/+ c.829G>A p.(Asp277Asn) missense_variant - 15/16 - r.(?) -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000547266; RCV000547266; RCV000547266;
Chromosome 1:201328764..201328764
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 447542
Disease database name and identifier MedGen:C1832243, OMIM:601494|MedGen:C1861864, OMIM:115195|MedGen:C2676271, OMIM:612422
ClinVar preferred disease name Left ventricular noncompaction 6|Familial hypertrophic cardiomyopathy 2|Familial restrictive cardiomyopathy 3
HGVS variant names NC 000001.10:g.201328764C>A
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. TNNT2:7139
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 121964861
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000013229;
Chromosome 1:201328764..201328764
ClinVar Allele ID 27456
Disease database name and identifier MedGen:C1832243, OMIM:601494
ClinVar preferred disease name Left ventricular noncompaction 6
HGVS variant names NC 000001.10:g.201328764C>T
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:191045.0010
Gene symbol:Gene id. TNNT2:7139
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 121964861
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs1219648611201328764201328764C/TOMIM phenotype variantsCARDIOMYOPATHY, DILATED, 1D
rs1219648611201328764201328764C/TOMIM phenotype variantsLeft ventricular noncompaction 6
CM0435961201328764201328764HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available