Variant #0000518001 (NC_000003.11:g.133474225C>T, TF(NM_001063.3):c.521C>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.133474225C>T
DNA change (hg38) g.133755381C>T
Published as TF(NM_001063.3):c.521C>T (p.S174L)
ISCN -
DB-ID TF_000009
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) 0.00077 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TF NM_001063.3 ?/. - c.521C>T r.(?) p.(Ser174Leu)