Variant #0000048953 (NC_000001.10:g.27120992G>A, PIGV(NM_017837.3):c.467G>A)

Individual ID 00025924
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.27120992G>A
DNA change (hg38) g.26794501G>A
Published as -
ISCN -
DB-ID PIGV_000005 See all 3 reported entries
Variant remarks This mutation was not detected in 150 control samples. This missense mutation affects a conserved residue.
Reference PubMed: Horn 2011
ClinVar ID -
dbSNP ID -
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.467G>A r.(?) p.(Cys156Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025926 DNA SEQ - - PIGV 2 Philippe Campeau