Genomic variant #0000413287

Chromosome 7
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.99359800G>A
DNA change (hg38) -
Published as 21896C>T (L373F)
ISCN -
DB-ID CYP3A4_000017 See all 2 reported entries
Variant remarks Enzime activity in_vitro: Decrease?
Reference PubMed: EiseltĀ 2001
ClinVar ID -
dbSNP ID rs45614732
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00092 View details
Owner Julia Lopez




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
CYP3A4 NM_017460.5 +/+ 11 c.1117C>T - r.(?) p.(Leu373Phe) CYP3A4*12