Genomic variant #0000357732

Individual ID 00155033
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.27120701T>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID PIGV_000021
Variant remarks -
Reference PubMed: Horn et al. 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 View details
Owner Philippe Campeau
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PIGV NM_017837.3 +?/. - c.176T>G - r.(?) p.(Leu59Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155897 DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit PIGV 2 Philippe Campeau