Genomic variant #0000604351

Individual ID 00000001
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.8905010G>A
Reference -
DB-ID PMM2_000017
dbSNP ID rs28936415
Frequency 0.003876
Allele Count 2
Allele Number 516
Combined Depth 7536
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00385 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMM2 NM_000303.2 ./. - c.422G>A r.(?) p.(Arg141His)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin