Variant #0000439018 (NC_000001.10:g.27120977C>T, PIGV(NM_017837.3):c.452C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.27120977C>T
DNA change (hg38) g.26794486C>T
Published as -
ISCN -
DB-ID PIGV_000026
Variant remarks -
Reference PubMed: Knaus et al. 2018
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Philippe Campeau
Database submission license No license selected
Created by Philippe Campeau
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGV NM_017837.3 +?/+? - c.452C>T r.(?) p.(Ala151Val)