LOVD - Variant listings for IL12RB1

About this overview [Show]

Patient data (#0065353)
Patient ID 29256176-P2
Disease OMIM 614891
Phenotype additional -
Remarks -
Ref_pat-pheno Alinejad Dizaj 2018
Inherit familial, autosomal recessive
Consang. no
Fam_Pat 1(1)
# Reported 1
Geographic origin Iran
Ethnic origin -
Gender Male
Phenotype/Onset -
Histology -

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 9
DNA change c.847C>T   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change -
Protein p.Arg283*
DB-ID IL12RB1_00041
Variant remarks -
Genetic origin germline (inherited)
Reference Alinejad Dizaj 2018
Template DNA
Technique SEQ
Frequency -
Prot/Location not on membrane

2 entries in IL12RB1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Genetic origin Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
Prot/Location Descending
Ascending
+/+ Paternal (inferred) 9 c.847C>T - - p.Arg283* IL12RB1_00041 - germline (inherited) Alinejad Dizaj 2018 DNA SEQ - not on membrane
+/+ Maternal (inferred) 9 c.847C>T - - p.Arg283* IL12RB1_00041 - germline (inherited) Alinejad Dizaj 2018 DNA SEQ - not on membrane