Variant #0000408230 (NC_000003.11:g.49759490G>A, GMPPB(NM_021971.2):c.859C>T)

Individual ID 00183264
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification 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 Lazar ASHG2018 P1192
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0001 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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     
0000184221 DNA SEQ;SEQ-NG - - DAG1, GMPPB, POMT2 3 Johan den Dunnen