LOVD - Variant listings for GUCA1B

About this overview [Show]

Patient data (#0014100)
Disease retinitis pigmentosa
Phenotype additional -
Remarks -
Reference Netherlands:Nijmegen
Inheritance -
Consanguinity -
Families/Patients ?
# Reported 1
Geographic origin -
Ethnic origin -
Gender M
Age_onset 11y
Phenotype_onset -
Submitter Kornelia Neveling

Variant data
Allele Parent #1
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
Exon 3i
DNA change c.476-9C>G   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change r.(spl?)
Protein p.(?)
DB-ID GUCA1B_00003
Variant remarks predicted benign
Origin germline (inherited)
Reference Neveling 2012
Detection/Template DNA
Detection/Technique SEQ, SEQ-NG-S
Frequency -
RE-site -

1 entry in GUCA1B

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 3i c.476-9C>G - r.(spl?) p.(?) GUCA1B_00003 predicted benign germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - -

1 entry in SNRNP200

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 4i c.575-7G>T - r.(spl?) p.(?) SNRNP200_00005 predicted benign germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - -