Genomic variant #0000413288

Individual ID 00000032
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.99359670G>A
DNA change (hg38) -
Published as 22026C>T (P416L)
ISCN -
DB-ID CYP3A4_000016 See all 2 reported entries
Variant remarks Enzime activity in_vitro: Decrease
Reference PubMed: EiseltĀ 2001
ClinVar ID -
dbSNP ID rs4986909
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 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.1247C>T - r.(?) p.(Pro416Leu) CYP3A4*13



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000032 DNA SEQ-NG - - ADA, ATP7B, BTD, DPYD, GLB1, HEXB, PKHD1, PMM2, RPGRIP1L, SERPINA1, SLC26A2, SMPD1 12 LOVD-team, but with Curator vacancy