Genomic variant #0000472837

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.119027711C>T
Reference -
DB-ID ABCG4_000008
dbSNP ID rs35060365
Frequency 0.014
Allele Count 7
Allele Number 516
Combined Depth 4678
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.02102 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCG4 NM_022169.4 ./. - c.1055C>T r.(?) p.(Pro352Leu)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin