Genomic variant #0000357723

Individual ID 00155025
Chromosome 1
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.27121379A>G
DNA change (hg38) -
Published as NM_001202554:c.854A>G
ISCN -
DB-ID PIGV_000018
Variant remarks -
Reference PubMed: Xue et al. 2016
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 +?/. 2 c.854A>G - r.(?) p.(Tyr285Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155890 DNA SEQ-NG - panel of 470 genes related to epilepsy - 2 Philippe Campeau