Variant #0000469169 (NC_000003.11:g.81695562T>C, GBE1(NM_000158.3):c.763A>G)

Individual ID 00227817
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.81695562T>C
DNA change (hg38) g.81646411T>C
Published as -
ISCN -
DB-ID GBE1_000030
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gunnar Schmidt
Database submission license No license selected
Created by Gunnar Schmidt
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 ?/. - c.763A>G r.(?) p.(Ser255Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000228906 DNA SEQ - - - 1 Gunnar Schmidt