Genomic variant #0000413283

Individual ID 00000026
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.99367788C>T
DNA change (hg38) -
Published as 13908G>A (R130Q)
ISCN -
DB-ID CYP3A4_000050 See all 2 reported entries
Variant remarks Enzime activity in_vitro: Decrease
Reference PubMed: EiseltĀ 2001
ClinVar ID -
dbSNP ID rs72552799
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00023 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 +/+ 5 c.389G>A - r.(?) p.(Arg130Gln) CYP3A4*8



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000026 DNA SEQ-NG - - AMPD1, ATP7B, CBS, CPT1A, ETFB, GLB1, GRHPR, HEXB, INVS, MECP2, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1, SLC26A2 17 LOVD-team, but with Curator vacancy