Genomic variant #0000048952

Individual ID 00025923
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.27121547C>T
DNA change (hg38) g.26795056C>T
Published as -
ISCN -
DB-ID PIGV_000004 See all 2 reported entries
Variant remarks This mutation affects a highly conserved residue. This was absent in 200 controls. 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 (large NGS studies) Variant not found in online data sets
Owner Philippe Campeau
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PIGV NM_017837.3 +/+ - c.1022C>T - r.(?) p.(Ala341Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025925 DNA SEQ - - PIGV 1 Philippe Campeau