Genomic variant #0000307495

Individual ID 00000001
Chromosome 7
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.87069130C>G
Reference -
DB-ID ABCB4_000036
dbSNP ID rs8187797
Frequency 0.003876
Allele Count 2
Allele Number 516
Combined Depth 8912
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.01061 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_000443.3 ./. - c.1584G>C r.(?) p.(Glu528Asp)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin