Genomic variant #0000357726

Individual ID 00155028
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.27121430T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID PIGV_000020
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) Variant not found in online data sets
Owner Philippe Campeau
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PIGV NM_017837.3 +?/. - c.905T>C - r.(?) p.(Leu302Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155892 DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit PIGV 1 Philippe Campeau