Variant #0000673642 (NC_000011.9:g.111709036C>T, ALG9(NM_024740.2):c.1261G>A)

Individual ID 00305912
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.111709036C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID ALG9_000021
Variant remarks -
Reference PubMed: Marcogliese 2018
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     
ALG9 NM_024740.2 ?/. - c.1261G>A r.(?) p.(Ala421Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307042 DNA SEQ;SEQ-NG - - BEST1, IRF2BPL 11 Johan den Dunnen