Variant #0000580089 (NC_000011.9:g.111724138T>C, ALG9(NM_024740.2):c.860A>G)

Individual ID 00249644
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.111724138T>C
DNA change (hg38) g.111853415T>C
Published as -
ISCN -
DB-ID ALG9_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner Gert Matthijs
Database submission license No license selected
Created by Gert Matthijs
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALG9 NM_024740.2 +/+ 8 c.860A>G r.(?) p.(Tyr287Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250751 DNA SEQ - - ALG9 1 Gert Matthijs