Genomic variant #0000307481

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.87053206G>A
Reference -
DB-ID ABCB4_000022
dbSNP ID rs31668
Frequency 0.934
Allele Count 482
Allele Number 516
Combined Depth 6386
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.92596 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_000443.3 ./. - c.2211+16C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin