LOVD - Variant listings for CRYBB2

About this overview [Show]

Patient data (#0013357)
Disease cataract, congenital, autosomal dominant
Phenotype additional -
Remarks -
Reference JdD
Inheritance -
Consanguinity -
Families/Patients -
# Reported 1
Geographic origin Germany
Ethnic origin -
Gender -
Age_onset -
Phenotype_onset -
Submitter Johan den Dunnen

Variant data
Allele Maternal (confirmed)
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
Exon 3i
DNA change c.173+120C>A   (View in UCSC Genome Browser, Ensembl)
Var_pub_as IVS3+120C>A
RNA change r.(=)
Protein p.(=)
DB-ID CRYBB2_00018
Variant remarks -
Origin germline (inherited)
Reference Graw 2006
Detection/Template DNA
Detection/Technique SEQ
Frequency -
RE-site -

3 entries in CRYAA

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_3 c.= - r.= p.= CRYAA_00000 - germline (inherited) - DNA SEQ - -
-/? Paternal (confirmed) 1 c.6C>T 6T>C r.(?) p.(=) CRYAA_00010 - germline (inherited) Graw 2006 DNA SEQ - -
+/? Parent #1 1 c.62G>T 62C>T r.(?) p.(Arg21Leu) CRYAA_00008 not in 192 control chromosomes germline (inherited) Graw 2006 DNA SEQ - HpaII-

4 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
-/? Maternal (confirmed) 3i c.173+120C>A IVS3+120C>A r.(=) p.(=) CRYBB2_00018 - germline (inherited) Graw 2006 DNA SEQ - -
-/? Maternal (confirmed) 3i c.174-337G>A IVS3-337G>A r.(=) p.(=) CRYBB2_00005 - germline (inherited) Graw 2006 DNA SEQ - -
-/? Maternal (confirmed) 5i c.449+8C>T IVS5+8C>T r.(=) p.(=) CRYBB2_00016 - germline (inherited) Graw 2006 DNA SEQ - -
-/? Paternal (confirmed) 5i c.449+9G>A IVS5+9G>A r.(=) p.(=) CRYBB2_00006 homozygous in father germline (inherited) Graw 2006 DNA SEQ - -