Variant #0000690340 (NC_000009.11:g.101980429C>T, ALG2(NM_033087.3):c.1038G>A)

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.101980429C>T
DNA change (hg38) -
Published as ALG2(NM_033087.3):c.1038G>A (p.S346=)
ISCN -
DB-ID ALG2_000014
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) 7.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SEC61B NM_006808.2 -?/. - c.-4217C>T r.(?) p.(=)
ALG2 NM_033087.3 -?/. - c.1038G>A r.(?) p.(Ser346=)