Variant #0000591656 (NC_000006.11:g.137528099C>T, NC_000006.11(NM_000416.2):c.200+1G>A (IFNGR1))
| Individual ID |
00260714 |
| Chromosome |
6 |
| Allele |
Maternal (confirmed) |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Probably affects function |
| Classification method |
- |
| Clinical classification |
pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.137528099C>T |
| DNA change (hg38) |
g.137206962C>T |
| Published as |
- |
| ISCN |
- |
| DB-ID |
IFNGR1_000008 |
| Variant remarks |
- |
| Reference |
PubMed: Altare 1998 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
LOVD |
| Database submission license |
No license selected |
| Created by |
Esther van de Vosse |
| Date created |
2012-05-23 14:02:55 +02:00 (CEST) |
| Date last edited |
2019-08-08 15:34:32 +02:00 (CEST) |

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