Variant #0000086694 (NC_000003.11:g.49759490G>A, GMPPB(NM_021971.2):c.859C>T)

Individual ID 00056486
Chromosome 3
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.49759490G>A
DNA change (hg38) g.49722057G>A
Published as -
ISCN -
DB-ID GMPPB_000013 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs142908436
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0001 View details
Owner Tom Winder
Database submission license No license selected
Created by Tom Winder
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GMPPB NM_021971.2 +?/. - c.859C>T r.(?) p.(Arg287Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056447 DNA PCR;SEQ - - GMPPB 2 Tom Winder