Genomic variant #0000760237

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.25275621T>C
Reference -
DB-ID PYGB_000122
dbSNP ID rs73598373
Frequency 0.07
Allele Count 36
Allele Number 516
Combined Depth 8283
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.05244 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PYGB NM_002862.3 ./. - c.2313-619T>C r.(=) p.(=)
ABHD12 NM_015600.4 ./. - c.1203A>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin