Genomic variant #0000307494

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.87060844C>T
Reference -
DB-ID ABCB4_000035
dbSNP ID rs45575636
Frequency 0.00969
Allele Count 5
Allele Number 516
Combined Depth 6564
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00784 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_000443.3 ./. - c.1769G>A r.(?) p.(Arg590Gln)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin