Variant #0000262717 (NC_000023.10:g.23874434C>A, APOO(NM_024122.4):c.546G>T)

Chromosome X
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.23874434C>A
DNA change (hg38) g.23856317C>A
Published as APOO(NM_024122.4):c.546G>T (p.K182N)
ISCN -
DB-ID APOO_000006
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_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APOO NM_024122.4 ?/. - c.546G>T r.(?) p.(Lys182Asn)