Variant #0000520689 (NC_000003.11:g.81548296C>T, GBE1(NM_000158.3):c.2017G>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.81548296C>T
DNA change (hg38) g.81499145C>T
Published as GBE1(NM_000158.3):c.2016G>A (p.(Ala673Thr)), GBE1(NM_000158.3):c.2017G>A (p.A673T)
ISCN -
DB-ID GBE1_000002 See all 3 reported entries
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) 0.005 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 -?/. - c.2017G>A r.(?) p.(Ala673Thr)