LOVD-USHBases

LOVD - Variant listings for CLRN1

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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14 entries
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Location Hide Location column Descending
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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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Protein Domain Hide Protein Domain column Descending
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Inheritance Hide Inheritance column Descending
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Variant remarks Hide Variant remarks column Descending
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dbSNP/RFC Hide dbSNP/RFC column Descending
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Reference Hide Reference column Descending
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Reported effect / publication Hide Reported effect / publication column Descending
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Frequency Hide Frequency column Descending
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Missense Hide Missense column Descending
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HSF Hide HSF column Descending
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Re-site Hide Re-site column Descending
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DB-ID Hide DB-ID column Descending
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Genomic DNA change Hide Genomic DNA change column Descending
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Exon 01 c.-290G>A r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +EarI;+MboII;-BseRI;-MnlI; CLRN1_00028 g.150690785C>T
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
Exon 01 c.6A>C
  (Reported 2 times)
r.(?) p.(=) - Heterozygous Neutral rs111033422 Le Quesne Stabej et al., 2012 Neutral 4/844 controls - HSF +BseYI CLRN1_00027 g.150690490T>G
Exon 01 c.126G>A
  (Reported 2 times)
r.(?) p.(=) - Heterozygous UV1 rs151049166 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF none CLRN1_00026 g.150690370C>T
Exon 01 c.218A>G r.(?) p.(Gln73Arg) - Heterozygous UV2 rs201008540 Licastro et al., 2012 - - USMA MSV3d HSF - CLRN1_00038 -
Intron 03i NM_001195794:c.472+4C>T r.(=) p.(=) - Heterozygous Neutral rs1684666 Besnard, Garcia-Garcia et al., 2014 - - - - - CLRN1_00037 g.150658264G>A
3' UTR 03 c.*277G>A
  (Reported 3 times)
r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - none CLRN1_00021 g.150645446C>T
3' UTR 03 c.*300T>C r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed - - - none CLRN1_00031 g.150645423A>G
3' UTR 03 c.*407G>A r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - -Hpy188I CLRN1_00025 g.150645316C>T
3' UTR 03 c.*725A>G r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +DdeI CLRN1_00023 g.150644998T>C
3' UTR 03 c.*916G>A r.(=) p.(=) - Heterozygous UV1 rs143654784 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +BpuEI;-XhoI;-TliI;-AvaI;-BsoBI;-Hpy188III; CLRN1_00029 g.150644807C>T
3' UTR 03 c.*964C>T r.(=) p.(=) - Heterozygous UV1 rs16863066 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +BccI;-HpyCH4III; CLRN1_00030 g.150644759G>A
3' UTR 03 c.*1027T>G r.(=) p.(=) - Heterozygous UV1 rs147434424 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - none CLRN1_00032 g.150644696A>C
3' UTR 03 c.*1191T>C r.(=) p.(=) - Heterozygous UV1 rs113817098 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +HinP1I;+HaeII;+HhaI; CLRN1_00033 g.150644532A>G
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Legend: [ CLRN1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Location: Variant location at DNA level. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Protein Domain: Protein Domain Inheritance: Type of inheritance (e.g. heterozygous) Variant remarks: Integrates Classification: Neutral - UV1 (certainly neutral) - UV2 (likely neutral) - UV3 (likely pathogenic) - UV4 (certainly pathogenic) - Pathogenic. Except for CHM where annotations concerning the effect of the variant are mentioned instead.

dbSNP/RFC: Accession number (rs) in dbSNP or link to reading frame checker Reference: Reference describing the variation Reported effect / publication: Original classification reported by the authors. Frequency: Frequency (control chromosomes) Missense: Create a link for USMA and/or MSV3d HSF: Direct link to HSF Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. CLRN1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Genomic DNA change: Genomic DNA change following hg19