Variant #0000520711 (NC_000003.11:g.81720013G>A, GBE1(NM_000158.3):c.405C>T)

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.81720013G>A
DNA change (hg38) g.81670862G>A
Published as GBE1(NM_000158.3):c.404C>T (p.(Leu135=)), GBE1(NM_000158.3):c.405C>T (p.L135=, p.T135=)
ISCN -
DB-ID GBE1_000017 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) 0.00287 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.405C>T r.(?) p.(Leu135=)