Variant #0000520718 (NC_000003.11:g.81810551G>T, GBE1(NM_000158.3):c.118C>A)

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.81810551G>T
DNA change (hg38) g.81761400G>T
Published as GBE1(NM_000158.3):c.117C>A (p.(Pro40Thr)), GBE1(NM_000158.3):c.118C>A (p.P40T)
ISCN -
DB-ID GBE1_000020 See all 2 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) 0.0025 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 -/. - c.118C>A r.(?) p.(Pro40Thr)