Genomic variant #0000472847

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.119031446G>A
Reference -
DB-ID ABCG4_000028
dbSNP ID rs76446609
Frequency 0.027
Allele Count 14
Allele Number 516
Combined Depth 7598
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     
ABCG4 NM_022169.4 ./. - c.1715+80G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin