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 International |
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) |

Variant on transcripts
Screenings
|