LOVD-USHBases

LOVD - Variant listings for CLRN1

About this overview [Show]

Patient data (#0003543)
Patient ID FI0106400011
Disease Usher type III (USH3)
Reference Ratnam et al., 2012
Template DNA
Technique SEQ
Remarks Proband
# Reported 1
Gender Male
Geographic origin FINLAND
Submitter Anne-Fran├žoise Roux

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Location Exon
Exon 01
DNA change c.144T>G   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Asn48Lys)
Protein Domain -
Inheritance Heterozygous
Variant remarks Pathogenic
dbSNP/RFC rs111033258
Reference Ratnam et al., 2012
Reported effect / publication -
Frequency -
Missense USMA MSV3d
HSF HSF
Re-site +PhoI;+StuI;+HaeIII;+CviKI_1;
DB-ID CLRN1_00007
Genomic DNA change g.150690352A>C

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
+/+ Parent #1 Exon 01 c.144T>G r.(?) p.(Asn48Lys) - Heterozygous Pathogenic rs111033258 Ratnam et al., 2012 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C
+/+ Parent #2 Exon 03 c.563C>A r.(?) p.(Ser188*) Transmembrane 4 (186-206) Heterozygous Pathogenic - Ratnam et al., 2012 - - - HSF +Tsp509I;-MnlI; CLRN1_00034 g.150645859G>T