LOVD - Variant listings for CRYGD

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Patient data (#0013625)
Disease cataract, autosomal recessive
Phenotype additional posterior polar/lenticonus, capsular dehiscence
Remarks family, 1 affected
Reference JdD
Inheritance -
Consanguinity -
Families/Patients -
# Reported 1
Geographic origin India
Ethnic origin -
Gender -
Age_onset -
Phenotype_onset -
Submitter Johan den Dunnen

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
Exon 3
DNA change c.*12T>C   (View in UCSC Genome Browser, Ensembl)
Var_pub_as 537C>T
RNA change r.(?)
Protein p.(=)
DB-ID CRYGD_00019
Variant remarks -
Origin germline (inherited)
Reference Santhiya 2004
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
-/? Unknown 1i c.-27+77A>G IVS1+84A>G (Z99919.1:65894A>G) r.(=) p.(=) CRYBB2_00001 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Unknown 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
-/? Unknown 3 c.443T>C 443C>T (L148P) r.(?) p.(Pro148Leu) CRYGA_00004 - germline (inherited) Santhiya 2004 DNA SEQ - -

3 entries in CRYGD

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
-/? Unknown 2 c.51T>C Y17Y r.(?) p.(=) CRYGD_00007 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Unknown 3 c.285A>G 285G>A (R95R) r.(?) p.(=) CRYGD_00006 - germline (inherited) Santhiya 2004 DNA SEQ - -
-/? Unknown 3 c.*12T>C 537C>T r.(?) p.(=) CRYGD_00019 - germline (inherited) Santhiya 2004 DNA SEQ - -