Variant #0000048961 (NC_000001.10:g.27124222C>T, PIGV(NM_017837.3):c.1369C>T)

Individual ID 00025929
Chromosome 1
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.27124222C>T
DNA change (hg38) g.26797731C>T
Published as -
ISCN -
DB-ID PIGV_000007 See all 3 reported entries
Variant remarks PIGV-defective Chinese hamster ovary (CHO) cells, the altered protein restored the surface levels of GPI-APs as efficiently as the wild-type protein, suggesting no functional impairment of PIGV
Reference PubMed: Howard 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00086 View details
Owner Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGV NM_017837.3 -?/. - c.1369C>T r.(?) p.(Leu457Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025931 DNA SEQ-NG - - PGAP3 1 Philippe Campeau