Genomic variant #0000760235

Individual ID 00000001
Chromosome 20
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.25275554_25275559del
Reference -
DB-ID PYGB_000120
dbSNP ID rs16436
Frequency 0.023
Allele Count 11
Allele Number 478
Combined Depth 1521
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.45712 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PYGB NM_002862.3 ./. - c.2312+626_2312+631del r.(=) p.(=)
ABHD12 NM_015600.4 ./. - c.*50_*55del r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin