LOVD - Variant listings for CRYBB2

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Patient data (#0013563)
Disease cataract, autosomal dominant
Phenotype additional -
Remarks 4-generation family, 19 affecteds
Reference JdD
Inheritance -
Consanguinity -
Families/Patients -
# Reported 19
Geographic origin Chile
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 normal 2nd chromosome
Origin germline (inherited)
Reference -
Detection/Template DNA
Detection/Technique SEQ
Frequency -
RE-site -

3 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 normal 2nd chromosome germline (inherited) - DNA SEQ - -
+/? Parent #1 6 c.463C>T 475C>T r.(?) p.(Gln155*) CRYBB2_00002 mapped by linkage (LOD score 7.95); origin probable gene conversion with CRYBP1 germline (inherited) Bateman 2007 DNA SEQ - -
-/? Parent #1 6 c.471C>T 483C>T r.(?) p.(=) CRYBB2_00019 origin probable gene conversion with CRYBP1 germline (inherited) Bateman 2007 DNA SEQ - -