Variant #0000520688 (NC_000003.11:g.81548211_81548212insGAA, GBE1(NM_000158.3):c.2052+51_2052+52insCTT)

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.81548211_81548212insGAA
DNA change (hg38) g.81499060_81499061insGAA
Published as GBE1(NM_000158.3):c.2052+51_2052+52insCTT
ISCN -
DB-ID GBE1_000031
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 -/. - c.2052+51_2052+52insCTT r.(=) p.(=)