Genomic variant #0000472818

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.119020719C>T
Reference -
DB-ID ABCG4_000002
dbSNP ID rs113286118
Frequency 0.005814
Allele Count 3
Allele Number 516
Combined Depth 6767
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00755 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCG4 NM_022169.4 ./. - c.44C>T r.(?) p.(Pro15Leu)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin