Variant #0000357946 (NC_000020.10:g.44049218dup, NM_015937.5:c.918dup (PIGT))

Individual ID 00155219
Chromosome 20
Allele Maternal (confirmed)
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.44049218dup
DNA change (hg38) g.45420578dup
Published as -
ISCN -
DB-ID PIGT_000020 See all 2 reported entries
Variant remarks -
Reference PubMed: Lam et al. 2015
ClinVar ID -
dbSNP ID -
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 2018-03-15 21:42:04 +01:00 (CET)
Date last edited 2020-07-16 17:41:10 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGT NM_015937.5 +?/. - c.918dup r.(?) p.(Val307Argfs*13)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156083 DNA SEQ-NG peripheral leukocytes WES - 2 Philippe Campeau


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