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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IFNGR1 NM_000416.2 +/+? 2i c.200+1G>A RNA undetectable p.(splicing?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000261819 DNA SEQ - - IFNGR1 2 LOVD


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