Genomic variant #0000048956

Individual ID 00025926
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
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 2 reported entries
Variant remarks This mutation alters a residues in PIGV that is well conserved adn it was not found in the 4,000 exomes available through the University of Washington genome centre.
Reference PubMed: Thompson 2012
ClinVar ID -
dbSNP ID -
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.467G>A - r.(?) p.(Cys156Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025928 DNA SEQ - - PIGV 2 Philippe Campeau