Variant #0000597587 (NC_000009.11:g.101983953_101983963delinsCGGGGACT, ALG2(NM_033087.3):c.214_224delinsAGTCCCCG)

Individual ID 00265647
Chromosome 9
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.101983953_101983963delinsCGGGGACT
DNA change (hg38) g.99221671_99221681delinsCGGGGACT
Published as -
ISCN -
DB-ID ALG2_000009
Variant remarks ACMG PVS1, PP1-S, PM2, PM3, PM4, PP1, PP3, PP4
Reference PubMed: Monies 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALG2 NM_033087.3 +/. - c.214_224delinsAGTCCCCG r.(?) p.(Gly72_Leu75delinsSerProArg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000266770 DNA SEQ;SEQ-NG - 759-gene panel neurological disorders ALG2 1 Johan den Dunnen