Variant #0000339036 (NC_000011.9:g.1954966C>T, TNNT3(NM_006757.3):c.187C>T)

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1954966C>T
DNA change (hg38) g.1933736C>T
Published as -
ISCN -
DB-ID TNNT3_000010 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TNNT3 NM_006757.3 +/. - c.187C>T r.(?) p.(Arg63Cys)