Genomic variant #0000307517

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.87082497_87082501del
Reference -
DB-ID ABCB4_000058
dbSNP ID rs199500302
Frequency 0.003876
Allele Count 2
Allele Number 516
Combined Depth 3560
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.0228 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_000443.3 ./. - c.345-50_345-46del r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin