Genomic variant #0000001693

Chromosome 1
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.201333469C>T
Published as -
GERP 4.280
Segregation -
DB-ID TNNT2_000007
dbSNP ID rs397516466
Frequency -
Sources ; clinvar;
Reference 20973921
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.446G>A p.(Arg149His) missense_variant - 11/17 - r.(?) -
TNNT2 NM_000364.3 +?/+? c.446G>A p.(Arg149His) missense_variant - 11/17 - r.(?) -


ClinVar @ MSeqDR

52811
MedGen:C1832243,OMIM:601494|MedGen:C1861864,OMIM:115195|MedGen:C2676271,OMIM:612422|MedGen:CN169374|MedGen:CN517202
Left ventricular noncompaction 6|Familial hypertrophic cardiomyopathy 2|Familial restrictive cardiomyopathy 3|not specified|not provided
HGVS variant names NC 000001.10:g.201333469C>T
criteria provided, conflicting interpretations
Clinical Significance
Likely pathogenic(1),Uncertain significance(2)
single nucleotide variant
SO:0001483
Gene symbol:Gene id. TNNT2:7139
SO:0001583|missense variant
1
dbSNP ID 397516466
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None