Genomic variant #0000001690

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.201332519G>A
Published as -
GERP 2.900
Segregation -
DB-ID TNNT2_000009
dbSNP ID rs397516469
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.505C>T p.(Arg169*) stop_gained - 12/17 - r.(?) -
TNNT2 NM_000364.3 +?/+? c.505C>T p.(Arg169*) stop_gained - 12/17 - r.(?) -


ClinVar @ MSeqDR

0.00002
52815
MedGen:CN169374
not specified
HGVS variant names NC 000001.10:g.201332519G>A
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. TNNT2:7139
SO:0001587|nonsense
1
dbSNP ID 397516469
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