Variant #0000622102 (NC_000009.11:g.101983941_101983951del, ALG2(NM_033087.3):c.226_236del)

Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.101983941_101983951del
DNA change (hg38) g.99221659_99221669del
Published as ALG2(NM_033087.3):c.226_236delCCGCGAGGCCT (p.P76Gfs*49)
ISCN -
DB-ID ALG2_000013
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SEC61B NM_006808.2 +/. - c.-705_-695del r.(?) p.(=)
ALG2 NM_033087.3 +/. - c.226_236del r.(?) p.(Pro76GlyfsTer49)