Variant #0000438540 (NC_000001.10:g.27001256_27190935dup, PIGV(NM_017837.3):c.-113561_*66600dup)

Individual ID 00207586
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.27001256_27190935dup
DNA change (hg38) g.26674765_26864444dup
Published as -
ISCN -
DB-ID PIGV_000024
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
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.-113561_*66600dup r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208623 DNA arrayCGH;FISH - - PIGV 1 Philippe Campeau