Genomic variant #0000678117

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.8914147G>T
Reference dbSNP
DB-ID PMM2_000010
dbSNP ID rs7190763
Frequency 0.01689
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)     

Position     

RNA change     

Protein     
PMM2 NM_000303.2 ./. - c.639+7184G>T - r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904756 Admin