Genomic variant #0000760241

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.25276123C>T
Reference -
DB-ID PYGB_000126
dbSNP ID rs561568357
Frequency 0.004016
Allele Count 2
Allele Number 498
Combined Depth 1809
Homozygous -
Heterozygote -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PYGB NM_002862.3 ./. - c.2313-117C>T r.(=) p.(=)
ABHD12 NM_015600.4 ./. - c.1158-457G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin