Genomic variant #0000472826

Individual ID 00000001
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.119025279G>A
Reference -
DB-ID ABCG4_000015
dbSNP ID rs12277959
Frequency 0.021
Allele Count 11
Allele Number 516
Combined Depth 6441
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.02864 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCG4 NM_022169.4 ./. - c.534G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin