Variant #0000048951 (NC_000001.10:g.27121291C>A, PIGV(NM_017837.3):c.766C>A)

Individual ID 00025922
Chromosome 1
Allele Both (homozygous)
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.27121291C>A
DNA change (hg38) g.26794800C>A
Published as -
ISCN -
DB-ID PIGV_000003
Variant remarks This mutations results in a substitution in a highly conserved residue. The mutation was not found in 200 controls.
Reference PubMed: Krawtiz 2010
ClinVar ID -
dbSNP ID rs267606952
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.766C>A r.(?) p.(Gln256Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025924 DNA SEQ - - PIGV 1 Philippe Campeau