LOVD-USHBases

LOVD - Variant listings for CLRN1

About this overview [Show]

Patient data (#0002797)
Patient ID UK0314600012
Disease Usher type I (USH1)
Reference Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON
Template DNA
Technique SEQ
Remarks Proband
# Reported 1
Gender -
Geographic origin U.K.
Submitter Maria Bitner-Glindzicz

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
Location Exon
Exon 01
DNA change c.-91C>T   (View in UCSC Genome Browser, Ensembl)
RNA change r.(=)
Protein p.(=)
Protein Domain -
Inheritance Heterozygous
Variant remarks UV1
dbSNP/RFC rs73155722
Reference Le Quesne Stabej et al., 2012
Reported effect / publication Not Assessed
Frequency 0/96 controls
Missense -
HSF -
Re-site +AlwNI
DB-ID CLRN1_00024
Genomic DNA change g.150690586G>A

4 entries in CDH23

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
-?/? Unknown Exon 10 c.1096G>A r.(?) p.(Ala366Thr) Cadherin 4 (349-460) Heterozygous UV2 rs143282422 Le Quesne Stabej et al., 2012 UV1 1/96 controls USMA MSV3d HSF none CDH23_00039
-/? Unknown Intron 24i c.2954-128C>T r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +Tsp45I;+DrdI;-SfaNI; CDH23_00235
-/- Unknown Exon 34 c.4310G>A r.(?) p.(Arg1437Gln) Cadherin 14 (1420-1527) Heterozygous Neutral rs56181447 Le Quesne Stabej et al., 2012 Neutral 36/874 controls USMA MSV3d HSF none CDH23_00029
-/? Unknown Intron 54i c.7873-33G>A r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +AlwI;+BstYI;+Sau3AI;+BamHI;-Sau96I;-AvaII; CDH23_00236

1 entry 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
-/? Unknown Exon 01 c.-91C>T r.(=) p.(=) - Heterozygous UV1 rs73155722 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +AlwNI CLRN1_00024 g.150690586G>A

3 entries in GPR98

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
-/? Unknown Intron 16i c.3022+8T>C r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF none GPR98_00053
-/? Unknown Intron 35i c.8287-60G>A r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none GPR98_00054
-/? Unknown Intron 47i c.10053+120A>C r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none GPR98_00052

4 entries in MYO7A

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
+/+ Unknown Exon 14 c.1563delC r.(?) p.(Asp521Glufs*8) Motor domain (1-729) Heterozygous Pathogenic - Le Quesne Stabej et al., 2012 Pathogenic 0/96 controls - HSF -MslI MYO7A_00194
+/+ Unknown Exon 30 c.3764delA r.(?) p.(Lys1255Argfs*8) - Heterozygous Pathogenic rs111033347 Le Quesne Stabej et al., 2012 Pathogenic - - HSF +Hpy188III MYO7A_00165
-/- Unknown Exon 43 c.5860C>A r.(?) p.(Leu1954Ile) FERM 2 (1902-2205) Heterozygous Neutral rs948962 Le Quesne Stabej et al., 2012 Neutral - USMA MSV3d HSF -Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI; MYO7A_00053
-/- Unknown Intron 48i c.6559-11C>T r.(=) p.(=) - Heterozygous Neutral rs34517202 Le Quesne Stabej et al., 2012 Neutral - - HSF +MnlI MYO7A_00420

1 entry in PCDH15

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
-/- Unknown Exon 33 c.4850A>G r.(?) p.(Asn1617Ser) - Heterozygous Neutral rs111033362 Le Quesne Stabej et al., 2012 Neutral 10/844 controls USMA MSV3d HSF none PCDH15_00041

2 entries in USH2A

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
-/? Unknown Exon 63 c.13631G>T r.(?) p.(Gly4544Val) Fibronectin type-III 31 (4529-4627) Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 0/878 controls USMA MSV3d HSF -PpuMI;-Sau96I;-AvaII;-EcoO109I; USH2A_00579
-/- Unknown Exon 70 c.15091C>T r.(?) p.(Arg5031Trp) - Heterozygous Neutral rs56038610 Le Quesne Stabej et al., 2012 UV1 - USMA MSV3d HSF -AciI;-BstUI; USH2A_00294