Variant #0000795631 (NC_000003.11:g.81691938T>C, GBE1(NM_000158.3):c.986A>G)

Individual ID 00380783
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.81691938T>C
DNA change (hg38) g.81642787T>C
Published as NM_000158.3:c.986A>G; p.Tyr329Cys
ISCN -
DB-ID GBE1_000001 See all 6 reported entries
Variant remarks -
Reference PubMed: Nair 2018
ClinVar ID -
dbSNP ID rs80338671
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00045 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 +?/. - c.986A>G r.(?) p.(Tyr329Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000381997 DNA SEQ-NG-I - whole exome sequencing - 1 LOVD