LOVD-USHBases

LOVD - Variant listings for CLRN1

About this overview [Show]

Patient data (#0002688)
Patient ID NL0101800431
Disease Autosomal recessive retinitis pigmentosa (ARRP)
Reference Khan et al., 2011
Template DNA
Technique SEQ
Remarks Relative
# Reported 1
Gender Male
Geographic origin PAKISTAN
Submitter Anne-Fran├žoise Roux

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
Location Exon
Exon 01
DNA change c.92C>T   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Pro31Leu)
Protein Domain -
Inheritance Homozygous
Variant remarks UV4
dbSNP/RFC -
Reference Khan et al., 2011
Reported effect / publication Pathogenic
Frequency 0/180 controls
Missense USMA MSV3d
HSF HSF
Re-site +TspRI
DB-ID CLRN1_00020
Genomic DNA change g.150690404G>A

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.92C>T r.(?) p.(Pro31Leu) - Homozygous UV4 - Khan et al., 2011 Pathogenic 0/180 controls USMA MSV3d HSF +TspRI CLRN1_00020 g.150690404G>A
+/? Maternal (inferred) Exon 01 c.92C>T r.(?) p.(Pro31Leu) - Homozygous UV4 - Khan et al., 2011 Pathogenic 0/180 controls USMA MSV3d HSF +TspRI CLRN1_00020 g.150690404G>A