LOVD - Variant listings for IL12RB1

About this overview [Show]

Patient data (#0065352)
Patient ID 29256176-P1
Disease OMIM 614891
Phenotype additional -
Remarks -
Ref_pat-pheno Alinejad Dizaj 2018
Inherit familial, autosomal recessive
Consang. yes
Fam_Pat 1(1)
# Reported 1
Geographic origin Iran
Ethnic origin -
Gender Female
Phenotype/Onset -
Histology -

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 5
DNA change c.512A>C   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change -
Protein p.(Gln171Pro)
DB-ID IL12RB1_00026
Variant remarks -
Genetic origin germline (inherited)
Reference Alinejad Dizaj 2018
Template DNA
Technique SEQ
Frequency -
Prot/Location -

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) 5 c.512A>C - - p.(Gln171Pro) IL12RB1_00026 - germline (inherited) Alinejad Dizaj 2018 DNA SEQ - -
+/+ Maternal (inferred) 5 c.512A>C - - p.(Gln171Pro) IL12RB1_00026 - germline (inherited) Alinejad Dizaj 2018 DNA SEQ - -