Variant #0000036063 (NC_000008.10:g.42977740A>G, NM_032237.4:c.773A>G (POMK))

Chromosome 8
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.42977740A>G
DNA change (hg38) g.43122597A>G
Published as -
ISCN -
DB-ID POMK_000002 See all 5 reported entries
Variant remarks expression cloning neither restored alpha-DG glycosylation nor enhanced susceptibility to infection with rVSV-GP-LASV
Reference PubMed: Jae 2013, OMIM:var0002
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-03-22 16:48:33 +01:00 (CET)
Date last edited 2020-07-14 21:50:58 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POMK NM_032237.4 +/? 5 c.773A>G r.(?) p.Gln258Arg


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