Variant #0000542324 (NC_000011.9:g.111746226T>C, ALG9(NM_024740.2):c.-4020A>G)

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.111746226T>C
DNA change (hg38) g.111875502T>C
Published as FDXACB1(NM_138378.2):c.1295A>G (p.K432R)
ISCN -
DB-ID ALG9_000015
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) 3.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C11orf1 NM_022761.2 -?/. - c.-4059T>C r.(?) p.(=)
ALG9 NM_024740.2 -?/. - c.-4020A>G r.(?) p.(=)
FDXACB1 NM_138378.2 -?/. - c.1295A>G r.(?) p.(Lys432Arg)