Variant #0000608333 (NC_000003.11:g.133476769C>T, TF(NM_001063.3):c.1027C>T)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.133476769C>T
DNA change (hg38) g.133757925C>T
Published as TF(NM_001354703.1):c.895C>T (p.R299W)
ISCN -
DB-ID TF_000013
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00085 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TF NM_001063.3 ?/. - c.1027C>T r.(?) p.(Arg343Trp)