View genomic variant #0000001688

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.201331116C>A
Published as -
GERP 4.440
Segregation -
DB-ID TNNT2_000015
MSCV MSCV_0001688
dbSNP ID rs121964860
Frequency -
Sources ; clinvar;
Reference 15542288;15923195;20031601
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 0000001688 +/+ c.635G>T p.(Arg212Leu) missense_variant - 13/16 - r.(?) -
TNNT2 00003346 NM_000364.3 0000001688 +/+ c.635G>T p.(Arg212Leu) missense_variant - 13/16 - r.(?) -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000013228;
Chromosome 1:201331116..201331116
ClinVar Allele ID 27455
Disease database name and identifier MedGen:C1832243, OMIM:601494
ClinVar preferred disease name Left ventricular noncompaction 6
HGVS variant names NC 000001.10:g.201331116C>A
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:191045.0009
Gene symbol:Gene id. TNNT2:7139
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 121964860
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000220074;
Chromosome 1:201331116..201331116
ClinVar Allele ID 228281
Disease database name and identifier MedGen:CN169374
ClinVar preferred disease name not specified
HGVS variant names NC 000001.10:g.201331116C>G
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 121964860
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000464711; RCV000152098;
Chromosome 1:201331116..201331116
ClinVar Allele ID 172498
Disease database name and identifier MedGen:C1861864, OMIM:115195|MedGen:CN169374
ClinVar preferred disease name Familial hypertrophic cardiomyopathy 2|not specified
HGVS variant names NC 000001.10:g.201331116C>T
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Likely pathogenic(1), Uncertain significance(1)
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 121964860
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
rs1219648601201331116201331116C/AOMIM phenotype variantsCARDIOMYOPATHY, DILATED, 1D
rs1219648601201331116201331116C/AOMIM phenotype variantsLeft ventricular noncompaction 6
CM0435951201331116201331116HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available