Variant #0000841187 (NC_000003.11:g.49759718C>A, GMPPB(NM_021971.2):c.714G>T)

Individual ID 00403853
Chromosome 3
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.49759718C>A
DNA change (hg38) g.49722285C>A
Published as -
ISCN -
DB-ID GMPPB_000028 See all 2 reported entries
Variant remarks -
Reference PubMed: Froukh 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 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.714G>T r.(?) p.(Gln238His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000405091 DNA SEQ;SEQ-NG - - - 2 Johan den Dunnen