Genomic variant #0000307526

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.87101766T>C
Reference -
DB-ID ABCB4_000067
dbSNP ID rs45590732
Frequency 0.034
Allele Count 17
Allele Number 500
Combined Depth 1460
Homozygous -
Heterozygote -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_000443.3 ./. - c.135+171A>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin