LOVD-USHBases

LOVD - Variant listings for CLRN1

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Patient data (#0005120)
Patient ID FR02CL514036371
Disease Usher type II (USH2)
Reference Bonnet et al., 2016, France:Paris
Template DNA
Technique SEQ, SEQ-NG-S
Remarks Proband
# Reported 1
Gender Male
Geographic origin FRANCE
Submitter Crystel Bonnet

Variant data
Allele Maternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Location Exon
Exon 01
DNA change c.227dup   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Leu76Phefs*54)
Protein Domain -
Inheritance Homozygous
Variant remarks Pathogenic
dbSNP/RFC -
Reference Bonnet et al., 2016
Reported effect / publication mutation
Frequency -
Missense -
HSF HSF
Re-site -
DB-ID CLRN1_00208
Genomic DNA change g.150690269dup

2 entries in CLRN1

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Protein Domain Descending
Ascending
Inheritance Descending
Ascending
Variant remarks Descending
Ascending
dbSNP/RFC Descending
Ascending
Reference Descending
Ascending
Reported effect / publication Descending
Ascending
Frequency Descending
Ascending
Missense Descending
Ascending
HSF Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
Genomic DNA change Descending
Ascending
+/+ Paternal (inferred) Exon 01 c.227dup r.(?) p.(Leu76Phefs*54) - Homozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - CLRN1_00208 g.150690269dup
+/+ Maternal (inferred) Exon 01 c.227dup r.(?) p.(Leu76Phefs*54) - Homozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - CLRN1_00208 g.150690269dup