Variant #0000669777 (NC_000003.11:g.81627175T>C, GBE1(NM_000158.3):c.1519A>G)

Individual ID 00304960
Chromosome 3
Allele Both (homozygous)
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.81627175T>C
DNA change (hg38) g.81578024T>C
Published as -
ISCN -
DB-ID GBE1_000025 See all 5 reported entries
Variant remarks 5 homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs2228389
Origin Germline
Segregation -
Frequency 5/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.04201 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 -?/. - c.1519A>G r.(?) p.(Thr507Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000306089 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq