Variant #0000535627 (NC_000009.11:g.101984040C>A, ALG2(NM_033087.3):c.137G>T)

Chromosome 9
Allele Unknown
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.101984040C>A
DNA change (hg38) g.99221758C>A
Published as ALG2(NM_033087.3):c.137G>T (p.(Ser46Ile))
ISCN -
DB-ID ALG2_000006
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SEC61B NM_006808.2 -?/. - c.-606C>A r.(?) p.(=)
ALG2 NM_033087.3 -?/. - c.137G>T r.(?) p.(Ser46Ile)