Variant #0000311792 (NC_000003.11:g.133474328G>A, TF(NM_001063.3):c.624G>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.133474328G>A
DNA change (hg38) g.133755484G>A
Published as TF(NM_001063.3):c.624G>A (p.S208=)
ISCN -
DB-ID TF_000006 See all 2 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 (gnomAD v.2.1.1) 0.33542 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.624G>A r.(?) p.(Ser208=)