Variant #0000357726 (NC_000001.10:g.27121430T>C, PIGV(NM_017837.3):c.905T>C)

Individual ID 00155028
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.27121430T>C
DNA change (hg38) g.26794939T>C
Published as -
ISCN -
DB-ID PIGV_000020
Variant remarks -
Reference PubMed: Horn et al. 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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.905T>C r.(?) p.(Leu302Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155892 DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit PIGV 1 Philippe Campeau