Variant #0000697589 (NC_000003.11:g.49760847del, GMPPB(NM_021971.2):c.190del)

Individual ID 00314327
Chromosome 3
Allele Unknown
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.49760847del
DNA change (hg38) g.49723414del
Published as -
ISCN -
DB-ID GMPPB_000030 See all 2 reported entries
Variant remarks combination of variants not reported
Reference PubMed: Topf 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/1001 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.190del r.(?) p.(Met64*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000315500 DNA SEQ;SEQ-NG - WES GMPPB 1 Johan den Dunnen