LOVD - Variant listings for CRYGD

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Patient data (#0013595)
Disease cataract, autosomal dominant
Phenotype additional -
Remarks 5-generation family, 21 affecteds
Reference JdD
Inheritance familial, autosomal dominant
Consanguinity -
Families/Patients -
# Reported 21
Geographic origin United States
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_3
DNA change c.=
Var_pub_as -
RNA change r.=
Protein p.=
DB-ID CRYGD_00000
Variant remarks normal 2nd chromosome
Origin germline (inherited)
Reference -
Detection/Template DNA
Detection/Technique SEQ
Frequency -
RE-site -

2 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
-/- Parent #2 1_3 c.= - r.= p.= CRYGD_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - -
+/? Parent #1 2 c.70C>A 305C>A (P23T) r.(?) p.(Pro24Thr) CRYGD_00002 mapped by linkage (LOD score 3.72); not in 200 control chromosomes germline (inherited) Burdon 2004 DNA SSCA, SEQ - -