Variant #0000439014 (NC_000020.10:g.44047933A>G, NC_000020.10(NM_015937.5):c.494-2A>G (PIGT))

Chromosome 20
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.44047933A>G
DNA change (hg38) g.45419293A>G
Published as -
ISCN -
DB-ID PIGT_000027
Variant remarks -
Reference PubMed: Knaus et al. 2018
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Date created 2018-12-03 22:24:09 +01:00 (CET)
Date last edited 2020-07-16 17:41:02 +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.494-2A>G r.spl? p.?


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