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
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