Full data view for gene UNC119

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_005148.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-2367C>T r.(?) p.(=) Unknown - VUS g.26881942G>A - PIGS(NM_033198.4):c.1319C>T (p.(Thr440Ile)) - PIGS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1851G>T r.(?) p.(=) Unknown - VUS g.26881426C>A - PIGS(NM_033198.4):c.1480G>T (p.A494S) - PIGS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.7del r.(?) p.(Val3*) Unknown ACMG likely pathogenic g.26879570del g.28552552del - - UNC119_000001 - PubMed: de Castro-Miró 2016 - - Germline - - - - - DNA SEQ-NG-I Whole blood - retinal disease 82ORG1 PubMed: de Castro-Miró 2016 - F no Argentina - - - - - 1 Marta de Castro-Miró
-?/. - c.57G>A r.(?) p.(Gly19=) Unknown - likely benign g.26879519C>T g.28552501C>T UNC119(NM_054035.2):c.57G>A (p.G19=) - PIGS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.65G>T r.(?) p.(Gly22Val) Unknown - benign g.26879511C>A g.28552493C>A UNC119(NM_054035.2):c.65G>T (p.G22V) - UNC119_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.169A>T r.(?) p.(Lys57*) Unknown - VUS g.26879407T>A g.28552389T>A HRG4 A-to-T transition in codon 57, changing a lysine to a premature termination codon - PIGS_000006 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Kobayashi 2000 - rs267607166 Germline yes - - - - DNA DGGE, SEQ blood - retinal disease ? PubMed: Kobayashi 2000 proband F - - - - - - - 1 LOVD
?/. 5 c.169A>T r.(?) p.(Lys57*) Maternal (confirmed) - VUS g.26879407T>A g.28552389T>A HRG4 A-to-T transition in codon 57, changing a lysine to a premature termination codon - PIGS_000006 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Kobayashi 2000 - rs267607166 Germline yes - - - - DNA DGGE blood - retinal disease ? PubMed: Kobayashi 2000 proband's daughter F - - - - - - - 1 LOVD
-?/. - c.234C>T r.(?) p.(Ser78=) Unknown - likely benign g.26875710G>A g.28548692G>A UNC119(NM_054035.2):c.234C>T (p.S78=) - UNC119_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234C>T r.(?) p.(Ser78=) Unknown - likely benign g.26875710G>A g.28548692G>A UNC119(NM_054035.2):c.234C>T (p.S78=) - UNC119_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.259G>A r.(?) p.(Asp87Asn) Parent #1 - likely pathogenic (dominant) g.26875685C>T g.28548667C>T - - UNC119_000013 - PubMed: Huang 2013, PubMed: Huang 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease Fam4;QT480 PubMed: Huang 2013, PubMed: Huang 2016 2-generation family, 1 affected M - China - - - - - 1 Johan den Dunnen
-/. - c.267C>G r.(?) p.(Val89=) Unknown - benign g.26875677G>C g.28548659G>C UNC119(NM_054035.2):c.267C>G (p.V89=) - UNC119_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267C>G r.(?) p.(Val89=) Unknown - likely benign g.26875677G>C g.28548659G>C UNC119(NM_054035.2):c.267C>G (p.V89=) - UNC119_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.370A>G r.(?) p.(Asn124Asp) Unknown - likely pathogenic (recessive) g.26875084T>C - c.370A>G - UNC119_000017 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
?/. - c.388C>T r.(?) p.(Arg130Cys) Unknown - VUS g.26875066G>A g.28548048G>A UNC119(NM_054035.2):c.388C>T (p.R130C) - UNC119_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.401C>T r.(?) p.(Thr134Met) Unknown - VUS g.26875053G>A - UNC119(NM_054035.2):c.401C>T (p.T134M) - UNC119_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.416G>A r.(?) p.(Arg139His) Unknown - VUS g.26875038C>T g.28548020C>T - - UNC119_000014 2/1266 control chromosomes PubMed: Xu 2015 - rs201337554 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP277 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. 3 c.416G>A r.(?) p.(Arg139His) Unknown - VUS g.26875038C>T g.28548020C>T G416A - UNC119_000014 - PubMed: Katagiri 2014 - rs201337554 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#007 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. 3 c.416G>A r.(?) p.(Arg139His) Unknown - VUS g.26875038C>T g.28548020C>T G416A - UNC119_000014 - PubMed: Katagiri 2014 - rs201337554 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#021 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.416G>A r.(?) p.(Arg139His) Unknown - VUS g.26875038C>T g.28548020C>T c.416C>T, p.(Arg139His) - UNC119_000014 error in annotation: c.416C>T instead of c.416G>A, heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13480 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
?/. - c.437C>T r.(?) p.(Thr146Met) Unknown - VUS g.26875017G>A - UNC119(NM_054035.2):c.437C>T (p.T146M) - UNC119_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.502C>T r.(?) p.(Arg168Cys) Unknown - VUS g.26874803G>A g.28547785G>A UNC119(NM_054035.2):c.502C>T (p.R168C) - UNC119_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.502C>T r.(?) p.(Arg168Cys) Unknown - likely benign g.26874803G>A g.28547785G>A UNC119(NM_054035.2):c.502C>T (p.R168C) - UNC119_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.502C>T r.(?) p.(Arg168Cys) Unknown - VUS g.26874803G>A g.28547785G>A UNC119(NM_054035.2):c.502C>T (p.R168C) - UNC119_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.599A>G r.(?) p.? Unknown - likely pathogenic (recessive) g.26874706T>C - c.599A>G - UNC119_000016 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
-?/. - c.600C>T r.(?) p.(Ser200=) Unknown - likely benign g.26874705G>A g.28547687G>A UNC119(NM_054035.2):c.600C>T (p.S200=) - UNC119_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.601G>T r.(601g>u) p.(Glu201*) Unknown ACMG likely pathogenic (dominant) g.26874704C>A - - - UNC119_000018 - - - - De novo - - - - - DNA SEQ-NG - - maculopathy - - - - - - - - - - - 1 Oscar F Chacon-Camacho
?/. - c.610+9G>T r.(=) p.(=) Unknown - VUS g.26874686C>A g.28547668C>A UNC119(NM_054035.2):c.619G>T (p.A207S) - UNC119_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.611-12C>T r.(=) p.(=) Unknown - likely benign g.26874439G>A g.28547421G>A UNC119(NM_054035.2):c.*203C>T - UNC119_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.663C>T r.(?) p.(Phe221=) Unknown - likely benign g.26874375G>A g.28547357G>A UNC119(NM_005148.4):c.663C>T (p.F221=) - UNC119_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.674G>A r.(?) p.(Arg225Gln) Unknown - VUS g.26874364C>T - UNC119(NM_001330166.1):c.389G>A (p.R130Q) - UNC119_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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