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 International |
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) |

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