LOVD - Variant listings for CRYBB2

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Patient data (#0000627)
Disease cataract, sutural, punctate and cerulean opacities (CSPC)
Phenotype additional sutural and cerulean opacities
Remarks 5-generation family, 33 affecteds
Reference JdD
Inheritance -
Consanguinity -
Families/Patients -
# Reported 33
Geographic origin India
Ethnic origin -
Gender -
Age_onset -
Phenotype_onset -
Submitter Johan den Dunnen

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
Exon 6
DNA change c.463C>T   (View in UCSC Genome Browser, Ensembl)
Var_pub_as 475C>T
RNA change r.(?)
Protein p.(Gln155*)
DB-ID CRYBB2_00002
Variant remarks mapped by linkage; origin probable gene conversion with CRYBP1
Origin germline (inherited)
Reference Vanita 2001, (OMIM 0001)
Detection/Template DNA
Detection/Technique SEQ
Frequency -
RE-site BfaI+

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; origin probable gene conversion with CRYBP1 germline (inherited) Vanita 2001, (OMIM 0001) DNA SEQ - BfaI+
-/? Parent #1 6 c.471C>T 483C>T r.(?) p.(=) CRYBB2_00019 origin probable gene conversion with CRYBP1 germline (inherited) Vanita 2001, (OMIM 0002) DNA SEQ - MspI-