Full data view for gene NRL

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006177.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Gender     

Consanguinity     

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Data_av     

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Owner     
+/. - c.149C>T r.(?) p.(Ser50Leu) Unknown - pathogenic g.24551909G>A g.24082700G>A - - NRL_000015 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. 3 c.149C>T r.(?) p.(Ser50Leu) Paternal (confirmed) ACMG pathogenic g.24551909G>A g.24082700G>A - - NRL_000015 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 303 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 3 LOVD
+/. 3 c.149C>T r.(?) p.(Ser50Leu) Maternal (confirmed) ACMG pathogenic g.24551909G>A g.24082700G>A - - NRL_000015 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ buccal cells targeted resequencing using MIPs library prep, 108-gene panel retinal disease 304 Tracewska 2021, MolVis in press father M no Poland Slavic - - yes - 1 LOVD
+/. 3 c.149C>T r.(?) p.(Ser50Leu) Maternal (inferred) ACMG pathogenic g.24551909G>A g.24082700G>A - - NRL_000015 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ buccal cells targeted resequencing using MIPs library prep, 108-gene panel retinal disease 825 Tracewska 2021, MolVis in press paternal grandmother F no Poland Slavic - - yes - 1 LOVD
+?/. - c.149C>T r.(?) p.(Ser50Leu) Unknown - likely pathogenic g.24551909G>A g.24082700G>A NRL c.149C>T, p.S50L - NRL_000015 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 5 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
?/. - c.149C>T r.(?) p.(Ser50Leu) Unknown ACMG VUS g.24551909G>A g.24082700G>A NRL c.C149T, p.S50L - NRL_000015 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 117 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 3 c.149C>T r.(?) p.(Ser50Leu) Unknown - likely pathogenic g.24551909G>A g.24082700G>A NRL TCA -> TTA Ser50Leu - NRL_000015 no nucleotide annotation, extrapolated from protein; heterozygous PubMed: DeAngelis 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease famE481 (001-338)pat_I:2 PubMed: DeAngelis 2002 index patient's paternal grandmother F - - - - - - - 1 LOVD
+?/. 3 c.149C>T r.(?) p.(Ser50Leu) Maternal (confirmed) - likely pathogenic g.24551909G>A g.24082700G>A NRL TCA -> TTA Ser50Leu - NRL_000015 no nucleotide annotation, extrapolated from protein; heterozygous PubMed: DeAngelis 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease famE481 (001-338)pat_II:2 PubMed: DeAngelis 2002 index patient's father M - - - - - - - 1 LOVD
+?/. 3 c.149C>T r.(?) p.(Ser50Leu) Maternal (confirmed) - likely pathogenic g.24551909G>A g.24082700G>A NRL TCA -> TTA Ser50Leu - NRL_000015 no nucleotide annotation, extrapolated from protein; heterozygous PubMed: DeAngelis 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease famE481 (001-338)pat_II:4 PubMed: DeAngelis 2002 index patient's paternal aunt F - - - - - - - 1 LOVD
+?/. 3 c.149C>T r.(?) p.(Ser50Leu) Paternal (confirmed) - likely pathogenic g.24551909G>A g.24082700G>A NRL TCA -> TTA Ser50Leu - NRL_000015 no nucleotide annotation, extrapolated from protein; heterozygous PubMed: DeAngelis 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease famE481 (001-338)pat_III:1 PubMed: DeAngelis 2002 index patient M - - - - - - - 1 LOVD
+?/. 3 c.149C>T r.(?) p.(Ser50Leu) Paternal (confirmed) - likely pathogenic g.24551909G>A g.24082700G>A NRL TCA -> TTA Ser50Leu - NRL_000015 no nucleotide annotation, extrapolated from protein; heterozygous PubMed: DeAngelis 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease famE481 (001-338)pat_III:2 PubMed: DeAngelis 2002 index patient's brother M - - - - - - - 1 LOVD
+?/. 3 c.149C>T r.(?) p.(Ser50Leu) Paternal (inferred) - likely pathogenic g.24551909G>A g.24082700G>A NRL TCA -> TTA Ser50Leu - NRL_000015 no nucleotide annotation, extrapolated from protein; heterozygous PubMed: DeAngelis 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease fam5763 (001-122)pat_I:1 PubMed: DeAngelis 2002 index patient's father M - - - - - - - 1 LOVD
+?/. 3 c.149C>T r.(?) p.(Ser50Leu) Paternal (confirmed) - likely pathogenic g.24551909G>A g.24082700G>A NRL TCA -> TTA Ser50Leu - NRL_000015 no nucleotide annotation, extrapolated from protein; heterozygous PubMed: DeAngelis 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease fam5763 (001-122)pat_II:3 PubMed: DeAngelis 2002 index patient M - - - - - - - 1 LOVD
+?/. - c.149C>T r.(?) p.(Ser50Leu) Unknown - likely pathogenic g.24551909G>A g.24082700G>A NRL c.149C>T, p.S50L - NRL_000015 NRL isoforms: 1, localisation: nuclear; binding to NRE: yes; luciferase assay (Rho promoter and CRX): up; effect: likely pathogenic mutation PubMed: Kanda 2007 - - In vitro (cloned) ? - - - - DNA ? - - retinal disease ? PubMed: Kanda 2007 cell line (HEK) NRL protein investigation - - - - - - - - 1 LOVD
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