Genomic variant #0000001685

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.201328764C>T
Published as -
GERP 4.070
Segregation -
DB-ID TNNT2_000012
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

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


ClinVar @ MSeqDR

0.00002
447542
MedGen:C1832243,OMIM:601494|MedGen:C1861864,OMIM:115195|MedGen:C2676271,OMIM:612422
Left ventricular noncompaction 6|Familial hypertrophic cardiomyopathy 2|Familial restrictive cardiomyopathy 3
HGVS variant names NC 000001.10:g.201328764C>A
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. TNNT2:7139
SO:0001583|missense variant
1
dbSNP ID 121964861
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

27456
MedGen:C1832243,OMIM:601494
Left ventricular noncompaction 6
HGVS variant names NC 000001.10:g.201328764C>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:191045.0010
Gene symbol:Gene id. TNNT2:7139
SO:0001583|missense variant
1
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