Genomic variant #0000588793

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.85382913del
Reference -
DB-ID ALPK3_000024
dbSNP ID rs1064795036
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 2408
Homozygous 0
Heterozygote 1
Average frequency (large NGS studies) 0.00399 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALPK3 NM_020778.4 ./. - c.1029-20del r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin