Genomic variant #0000307520

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.87092143G>C
Reference -
DB-ID ABCB4_000061
dbSNP ID rs8187788
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 6656
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00085 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_000443.3 ./. - c.217C>G r.(?) p.(Leu73Val)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin