Variant #0000048960 (NC_000001.10:g.27124222C>T, PIGV(NM_017837.3):c.1369C>T)

Individual ID 00025928
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.27124222C>T
DNA change (hg38) g.26797731C>T
Published as -
ISCN -
DB-ID PIGV_000007 See all 3 reported entries
Variant remarks This mutation results in a substitution in the mannose transferase domain of the enzyme. Polyphen-2 modeling for pathogenicity of the p.Leu457Phe variant suggested that it would probably be damaging to protein structure and function. It was 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) 0.00086 View details
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.1369C>T r.(?) p.(Leu457Phe)



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000025930 DNA SEQ - - PIGV 1 Philippe Campeau