Variant #0000259462 (NC_000011.9:g.111741126_111741127del, ALG9(NM_024740.2):c.132-14_132-13del)

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.111741126_111741127del
DNA change (hg38) g.111870403_111870404del
Published as ALG9(NM_001077691.2):c.-382-14_-382-13delTT
ISCN -
DB-ID ALG9_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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     
C11orf1 NM_022761.2 -?/. - c.-9159_-9158del r.(?) p.(=)
ALG9 NM_024740.2 -?/. - c.132-14_132-13del r.(=) p.(=)
FDXACB1 NM_138378.2 -?/. - c.*4539_*4540del r.(=) p.(=)