Variant #0000357724 (NC_000001.10:g.27121547C>A, PIGV(NM_017837.3):c.1022C>A)

Individual ID 00155027
Chromosome 1
Allele Maternal (confirmed)
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: Reynolds et al. 2017
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 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 +?/. 3 c.1022C>A r.(?) p.(Ala341Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155891 DNA SEQ-NG - WES - 2 Philippe Campeau