Genomic variant #0000307508

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.87079406T>A
Reference -
DB-ID ABCB4_000049
dbSNP ID rs2109505
Frequency 0.18
Allele Count 93
Allele Number 516
Combined Depth 7520
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.2249 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_000443.3 ./. - c.711A>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin