Variant #0000844722 (NC_000003.11:g.49759489C>T, GMPPB(NM_021971.2):c.860G>A)

Individual ID 00406648
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.49759489C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID GMPPB_000006 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00028 View details
Owner Martin Krenn
Database submission license No license selected
Created by Martin Krenn
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GMPPB NM_021971.2 +?/. - c.860G>A r.(?) p.(Arg287Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000407895 DNA SEQ - - - 2 Martin Krenn