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 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 +/. - 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