Genomic variant #0000760243

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.25276343G>A
Reference -
DB-ID PYGB_000128
dbSNP ID rs2258728
Frequency 0.438
Allele Count 226
Allele Number 516
Combined Depth 12221
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.4268 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PYGB NM_002862.3 ./. - c.2379+37G>A r.(=) p.(=)
ABHD12 NM_015600.4 ./. - c.1158-677C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin