Variant #0000048959 (NC_000001.10:g.27121547C>T, PIGV(NM_017837.3):c.1022C>T)

Individual ID 00025927
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.27121547C>T
DNA change (hg38) g.26795056C>T
Published as -
ISCN -
DB-ID PIGV_000004 See all 2 reported entries
Variant remarks This mutation affects a conserved residue. it was not not detected in the 4,000 exomes available through the University of Washington genome centre.
Reference PubMed: Thompson 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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.1022C>T r.(?) p.(Ala341Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025929 DNA SEQ - - PIGV 2 Philippe Campeau