Genomic variant #0000760244

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.25276503_25276504insAAAC
Reference -
DB-ID PYGB_000129
dbSNP ID rs1253578453
Frequency -
Allele Count -
Allele Number -
Combined Depth -
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.2379+197_2379+198insAAAC r.(=) p.(=)
ABHD12 NM_015600.4 ./. - c.1158-838_1158-837insGTTT r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin