Variant #0000629262 (NC_000018.9:g.59810570A>C, NM_176787.4:c.932T>G (PIGN))

Individual ID 00274143
Chromosome 18
Allele Maternal (confirmed)
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.59810570A>C
DNA change (hg38) g.62143337A>C
Published as -
ISCN -
DB-ID PIGN_000050 See all 4 reported entries
Variant remarks -
Reference PubMed: Pronicka 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/113 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-12-24 17:05:37 +01:00 (CET)
Date last edited 2021-05-22 19:05:57 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGN NM_176787.4 +/. - c.932T>G r.(?) p.(Leu311Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000275298 DNA SEQ;SEQ-NG - WES PIGN 2 Johan den Dunnen


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