Genomic variant #0000357728

Individual ID 00155030
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.27121547C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PIGV_000001 See all 14 reported entries
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) 0.00023 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.1022C>A - r.(?) p.(Ala341Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155894 DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit PIGV 1 Philippe Campeau