LOVD-USHBases

LOVD - Variant listings for CLRN1

About this overview [Show]

Patient data (#0001630)
Patient ID US0163500010
Disease Usher type III (USH3)
Reference Fields et al., 2002
Template DNA
Technique SEQ
Remarks Proband
# Reported 1
Gender Female
Geographic origin U.S.A.
Submitter Anne-Fran├žoise Roux

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Location Exon
Exon 01
DNA change c.149_152delCAGG   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Ser50Cysfs*21)
Protein Domain -
Inheritance Heterozygous
Variant remarks Pathogenic
dbSNP/RFC -
Reference Fields et al., 2002
Reported effect / publication -
Frequency 0/200 controls
Missense -
HSF HSF
Re-site -
DB-ID CLRN1_00003
Genomic DNA change g.150690344_150690347delCCTG

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.149_152delCAGG r.(?) p.(Ser50Cysfs*21) - Heterozygous Pathogenic - Fields et al., 2002 - 0/200 controls - HSF - CLRN1_00003 g.150690344_150690347delCCTG
+/+ Parent #2 Exon 03 c.528T>G r.(?) p.(Tyr176*) - Heterozygous Pathogenic rs121908140 Fields et al., 2002 - 0/200 controls - HSF - CLRN1_00005 g.150645894A>C