Genomic variant #0000048954

Individual ID 00025924
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification 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 -
ClinVar ID -
dbSNP ID rs139073416
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00023 View details
Owner 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     
0000025926 DNA SEQ - - PIGV 2 Philippe Campeau