LOVD-USHBases

LOVD - Variant listings for CLRN1

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Patient data (#0004929)
Patient ID CN01066USHsrf660
Disease Usher type II (USH2)
Reference Jiang et al., 2015
Template DNA
Technique SEQ, SEQ-NG-S
Remarks Proband
# Reported 1
Gender Female
Geographic origin CHINA
Submitter Anne-Fran├žoise Roux

Variant data
Allele Paternal (inferred)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Location Exon
Exon 01
DNA change c.191G>C   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Gly64Ala)
Protein Domain -
Inheritance Homozygous
Variant remarks UV3
dbSNP/RFC -
Reference Jiang et al., 2015
Reported effect / publication mutation
Frequency -
Missense USMA MSV3d
HSF HSF
Re-site -
DB-ID CLRN1_00040
Genomic DNA change g.150690305C>G

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.191G>C r.(?) p.(Gly64Ala) - Homozygous UV3 - Jiang et al., 2015 mutation - USMA MSV3d HSF - CLRN1_00040 g.150690305C>G
+?/? Maternal (inferred) Exon 01 c.191G>C r.(?) p.(Gly64Ala) - Homozygous UV3 - Jiang et al., 2015 mutation - USMA MSV3d HSF - CLRN1_00040 g.150690305C>G