Variant #0000833135 (NC_000003.11:g.49760037G>A, GMPPB(NM_021971.2):c.553C>T)

Individual ID 00399083
Chromosome 3
Allele Both (homozygous)
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.49760037G>A
DNA change (hg38) g.49722604G>A
Published as -
ISCN -
DB-ID GMPPB_000002 See all 9 reported entries
Variant remarks -
Reference PubMed: Gonzalez-Quereda 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GMPPB NM_021971.2 +?/. - c.553C>T r.(?) p.(Arg185Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000400328 DNA SEQ;SEQ-NG - 166-gene panel - 1 Johan den Dunnen