LOVD - Variant listings for CRYBB2

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Patient data (#0000623)
Disease cataract, congenital, cerulean type (CCA2)
Phenotype additional -
Remarks 5-generation family, 9 affecteds
Reference JdD
Inheritance -
Consanguinity -
Families/Patients -
# Reported 9
Geographic origin India
Ethnic origin -
Gender -
Age_onset -
Phenotype_onset -
Submitter Johan den Dunnen

Variant data
Allele Parent #1
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
Exon 6
DNA change c.483G>A   (View in UCSC Genome Browser, Ensembl)
Var_pub_as 495A>G (G161G)
RNA change r.(?)
Protein p.(=)
DB-ID CRYBB2_00008
Variant remarks -
Origin germline (inherited)
Reference Santhiya 2004
Detection/Template DNA
Detection/Technique SEQ
Frequency -
RE-site -

6 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 #1 1i c.-27+77A>G IVS1+84A>G (Z99919.1:65894A>G) r.(?) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/- Parent #2 1_6 c.= - r.= p.= CRYBB2_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - -
-/? Parent #1 3i c.173+120C>A IVS3+120C>A r.(=) p.(=) CRYBB2_00018 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Parent #1 3i c.174-337G>A IVS3-337G>A r.(=) p.(=) CRYBB2_00005 - germline (inherited) Santhiya 2004 DNA SEQ - -
+/? Parent #1 6 c.453G>T 465G>T r.(?) p.(Trp151Cys) CRYBB2_00017 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Parent #1 6 c.483G>A 495A>G (G161G) r.(?) p.(=) CRYBB2_00008 - germline (inherited) Santhiya 2004 DNA SEQ - -

1 entry in CRYGA

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 #1 1i c.10-21G>A IVS1+82G>A r.(=) p.(=) CRYGA_00003 - germline (inherited) Santhiya 2004 DNA SEQ - -

4 entries in CRYGB

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 #1 1 -47T>C c.-47C>T r.(=) p.(=) CRYGB_00003 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Parent #1 2 c.192T>C P64P r.(?) p.(=) CRYGB_00002 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Parent #1 2 c.218G>T - r.(?) p.(Ser73Ile) CRYGB_00004 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Parent #1 3 c.331A>C - r.(?) p.(Ile111Leu) CRYGB_00001 - germline (inherited) Santhiya 2004 DNA SEQ - -