Variant #0000357729 (NC_000001.10:g.27121547C>A, PIGV(NM_017837.3):c.1022C>A)

Individual ID 00155031
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.27121547C>A
DNA change (hg38) g.26795056C>A
Published as -
ISCN -
DB-ID PIGV_000001 See all 14 reported entries
Variant remarks -
Reference PubMed: Horn et al. 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGV NM_017837.3 +?/. - c.1022C>A r.(?) p.(Ala341Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155895 DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit PIGV 1 Philippe Campeau