Variant #0000542320 (NC_000011.9:g.111708992C>T, ALG9(NM_024740.2):c.1304G>A)

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.111708992C>T
DNA change (hg38) g.111838269C>T
Published as ALG9(NM_001077691.2):c.791G>A (p.R264H)
ISCN -
DB-ID ALG9_000011
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) 0 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALG9 NM_024740.2 ?/. - c.1304G>A r.(?) p.(Arg435His)