Genomic variant #0000307515

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.87082337A>G
Reference -
DB-ID ABCB4_000056
dbSNP ID rs2230027
Frequency 0.007752
Allele Count 4
Allele Number 516
Combined Depth 3526
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.01722 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_000443.3 ./. - c.459T>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin