Genomic variant #0000413297

Individual ID 00000041
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.99366081A>G
DNA change (hg38) -
Published as 15615T>C (F189S)
ISCN -
DB-ID CYP3A4_000041 See all 2 reported entries
Variant remarks Enzime activity in_vitro: Decrease
Reference PubMed: DaiĀ 2001
ClinVar ID -
dbSNP ID rs4987161
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Julia Lopez




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
CYP3A4 NM_017460.5 +/+ 7 c.566T>C - r.(?) p.(Phe189Ser) CYP3A4*17



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000041 DNA SEQ-NG - - ATP7A, ATP7B, DPYD, ETFB, IGHMBP2, MPL, MYO5A, NHLRC1, NPHP4, NPHS1, PLP1, SERPINA1 14 LOVD-team, but with Curator vacancy