Variant #0000048948 (NC_000001.10:g.27121547C>A, PIGV(NM_017837.3):c.1022C>A)

Individual ID 00025920
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.27121547C>A
DNA change (hg38) g.26795056C>A
Published as -
ISCN -
DB-ID PIGV_000001 See all 14 reported entries
Variant remarks This mutation affectis an evolutionarily highly conserved residue. PIGV-deficient CHO cells that were transiently transfected with p.Ala341Glu mutant didn't restore CD59 and CD55 surface expression.
Reference PubMed: Krawtiz 2010
ClinVar ID -
dbSNP ID rs139073416
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00011 View details
Owner Philippe Campeau
Database submission license No license selected
Created by Philippe Campeau
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGV NM_017837.3 +/+ - c.1022C>A r.(?) p.(Ala341Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025922 DNA SEQ - - PIGV 1 Philippe Campeau