Genomic variant #0000472835

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.119027691C>G
Reference -
DB-ID ABCG4_000033
dbSNP ID rs12271907
Frequency 0.041
Allele Count 21
Allele Number 516
Combined Depth 6158
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.07575 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCG4 NM_022169.4 ./. - c.1035C>G r.(?) p.(Asn345Lys)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin