Variant #0000248796 (NC_000003.11:g.133485133A>G, TF(NM_001063.3):c.1342=)

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.133485133A>G
DNA change (hg38) g.133766289A>G
Published as TF(NM_001063.3):c.1342A>G (p.I448V)
ISCN -
DB-ID TF_000007
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) 0.99133 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.1342= r.(=) p.(Val448=)