Variant #0000542318 (NC_000011.9:g.111706952G>A, ALG9(NM_024740.2):c.1538C>T)

Chromosome 11
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.111706952G>A
DNA change (hg38) g.111836229G>A
Published as ALG9(NM_001077690.1):c.1518C>T (p.(=)), ALG9(NM_001077691.1):c.1025C>T (p.P342L)
ISCN -
DB-ID ALG9_000009 See all 2 reported entries
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) 0.00251 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALG9 NM_024740.2 -?/. - c.1538C>T r.(?) p.(Pro513Leu)