Variant #0000874725 (NC_000003.11:g.81627202C>T, GBE1(NM_000158.3):c.1492G>A)

Individual ID 00415302
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.81627202C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID GBE1_000009 See all 6 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00072 View details
Owner Jonathan De Winter
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Jonathan De Winter
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 +/. - c.1492G>A r.(?) p.(Glu498Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000416583 DNA SEQ-NG-I Peripheral blood sample - - 2 Jonathan De Winter