Variant #0000048959 (NC_000001.10:g.27121547C>T, PIGV(NM_017837.3):c.1022C>T)

Individual ID 00025927
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.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 conserved residue. it was not not detected 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 (gnomAD v.2.1.1) Variant not found in online data sets
Owner Philippe Campeau
Database submission license No license selected
Created by Philippe Campeau
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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     
0000025929 DNA SEQ - - PIGV 2 Philippe Campeau