Genomic variant #0000588777

Individual ID 00000001
Chromosome 15
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.85360505_85360506insGGCCA
Reference -
DB-ID ALPK3_000008
dbSNP ID rs1064795973
Frequency -
Allele Count -
Allele Number -
Combined Depth -
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00802 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALPK3 NM_020778.4 ./. - c.428_429insGGCCA r.(?) p.(Glu148Glnfs*8)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin