Variant #0000047717 (NC_000020.10:g.44053134A>G, NC_000020.10(NM_015937.5):c.1401-2A>G (PIGT))

Individual ID 00024929
Chromosome 20
Allele Parent #1
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.44053134A>G
DNA change (hg38) g.45424494A>G
Published as -
ISCN -
DB-ID PIGT_000002
Variant remarks variant detected in 1239/1463 reads
Reference PubMed: Krawitz 2013, Journal: Krawitz 2013
ClinVar ID -
dbSNP ID rs587777028
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Date created 2014-11-20 22:55:55 +01:00 (CET)
Date last edited 2014-11-21 17:52:46 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGT NM_015937.5 +/. 10i c.1401-2A>G r.1401_1484del p.Ser467_Leu495delinsArg



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024924 DNA FISH;SEQ;SEQ-NG - - PIGT 2 Johan den Dunnen


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.