Variant #0000804865 (NC_000011.9:g.111742146del, ALG9(NM_024740.2):c.59_61=)

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.111742146del
DNA change (hg38) -
Published as ALG9(NM_024740.2):c.60delC (p.A21Pfs*55)
ISCN -
DB-ID ALG9_000006 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) 1 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C11orf1 NM_022761.2 -/. - c.-8139del r.(?) p.(=)
ALG9 NM_024740.2 -/. - c.59_61= r.(=) p.(Thr20=)
FDXACB1 NM_138378.2 -/. - c.*3500del r.(?) p.(=)