LOVD - Variant listings for CRYBB2

About this overview [Show]

Patient data (#0013568)
Disease cataract, autosomal dominant
Phenotype additional -
Remarks -
Reference JdD
Inheritance -
Consanguinity -
Families/Patients -
# Reported 1
Geographic origin -
Ethnic origin -
Gender -
Age_onset -
Phenotype_onset -
Submitter Johan den Dunnen

Variant data
Allele Parent #2
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 1_6
DNA change c.=
Var_pub_as -
RNA change r.=
Protein p.=
DB-ID CRYBB2_00000
Variant remarks -
Origin germline (inherited)
Reference -
Detection/Template DNA
Detection/Technique SEQ
Frequency -
RE-site -

2 entries in CRYBB2

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
Origin Descending
Ascending
Reference Descending
Ascending
Detection/Template Descending
Ascending
Detection/Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/- Parent #2 1_6 c.= - r.= p.= CRYBB2_00000 - germline (inherited) - DNA SEQ - -
+/? Parent #1 6 c.(554_565del) mouse 577_588del r.(554_565del) p.(Gln185_Arg188del) CRYBB2_00000 variant in Philly mouse germline (inherited) Chambers 1991 DNA, RNA RT-PCR, SEQ - -