Genomic variant #0000307477

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.87049345C>T
Reference -
DB-ID ABCB4_000018
dbSNP ID rs8187801
Frequency 0.019
Allele Count 10
Allele Number 516
Combined Depth 7860
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.02568 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_000443.3 ./. - c.2363G>A r.(?) p.(Arg788Gln)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin