Genomic variant #0000000638

Individual ID 00000032
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.8905010G>A
DNA change (hg38) g.8811153G>A
Published as -
ISCN -
DB-ID PMM2_000076
Variant remarks -
Reference PubMed: Bell 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00385 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMM2 NM_000303.2 +/+ 5 c.422G>A pathogenic r.(?) p.(Arg141His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000032 DNA SEQ-NG - - ADA, ATP7B, BTD, DPYD, GLB1, HEXB, PKHD1, PMM2, RPGRIP1L, SERPINA1, SLC26A2, SMPD1 12 LOVD-team, but with Curator vacancy