Genomic variant #0000001699

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.201334784T>C
Published as -
GERP 4.680
Segregation -
DB-ID TNNT2_000006
dbSNP ID rs397516450
Frequency -
Sources ; clinvar;
Reference -
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.248A>G p.(Asn83Ser) missense_variant - 9/17 - r.(?) -
TNNT2 NM_000364.3 +?/+? c.248A>G p.(Asn83Ser) missense_variant - 9/17 - r.(?) -


ClinVar @ MSeqDR

0.00002
52787
MedGen:C1832243,OMIM:601494|MedGen:C1861864,OMIM:115195|MedGen:C2676271,OMIM:612422|MedGen:CN169374
Left ventricular noncompaction 6|Familial hypertrophic cardiomyopathy 2|Familial restrictive cardiomyopathy 3|not specified
HGVS variant names NC 000001.10:g.201334784T>C
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. TNNT2:7139
SO:0001583|missense variant
1
dbSNP ID 397516450
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