Variant #0000309360 (NC_000011.9:g.1954967G>A, TNNT3(NM_006757.3):c.188G>A)

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.1954967G>A
DNA change (hg38) g.1933737G>A
Published as TNNT3(NM_001297646.1):c.164G>A (p.R55H), TNNT3(NM_001297646.2):c.164G>A (p.R55H)
ISCN -
DB-ID TNNT3_000001 See all 12 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_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TNNT3 NM_006757.3 +/. - c.188G>A r.(?) p.(Arg63His)