Full data view for gene ADIPOR1

Information The variants shown are described using the NM_015999.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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     
+?/. 2 c.31del r.(?) p.(Gln11Argfs*24) Both (homozygous) - likely pathogenic g.202920168del g.202951040del - - ADIPOR1_000001 - - - - Unknown ? - - - - DNA SEQ-NG-I - - retinal degeneration - - - M yes India South Asian - - 27y - 1 Mingchu Xu
+?/. - c.31delC r.(?) p.(Gln11Argfs*24) Both (homozygous) - likely pathogenic g.202920168del g.202951040del ADIPOR1 c.31delC (p.Q11Rfs*24) - ADIPOR1_000001 heterozygous PubMed: Xu 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted next-generation sequencing of 226 known retinal disease-causing genes negative, then whole exome sequencing retinal disease ? PubMed: Xu 2016 born from a consanguineous marriage between first cousins M - India South Asian - - - - 1 LOVD
-?/. - c.126C>T r.(?) p.(=) Unknown - likely benign g.202920073G>A g.202950945G>A ADIPOR1(NM_001290557.1):c.126C>T (p.I42=) - ADIPOR1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.186G>A r.(?) p.(=) Unknown - likely benign g.202917504C>T - ADIPOR1(NM_001290557.1):c.186G>A (p.E62=) - ADIPOR1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.199C>G r.(?) p.(Leu67Val) Unknown - VUS g.202917491G>C g.202948363G>C - - ADIPOR1_000004 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.259-14T>C r.(=) p.(=) Unknown - VUS g.202915752A>G g.202946624A>G ADIPOR1(NM_001290557.1):c.259-14T>C - ADIPOR1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279G>A r.(?) p.(=) Unknown - likely benign g.202915718C>T - ADIPOR1(NM_001290557.1):c.279G>A (p.R93=) - ADIPOR1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.322G>A r.(?) p.(Asp108Asn) Unknown - VUS g.202915675C>T g.202946547C>T - - ADIPOR1_000003 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs749789403 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
-?/. - c.328C>T r.(?) p.(=) Unknown - likely benign g.202915669G>A - ADIPOR1(NM_001290557.1):c.328C>T (p.L110=) - ADIPOR1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.576C>T r.(?) p.(=) Unknown - likely benign g.202914152G>A g.202945024G>A ADIPOR1(NM_001290557.1):c.576C>T (p.T192=) - ADIPOR1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.822T>C r.(?) p.(=) Unknown - benign g.202911330A>G g.202942202A>G ADIPOR1(NM_001290557.1):c.822T>C (p.L274=) - ADIPOR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.837C>A r.(?) p.(=) Unknown - likely benign g.202911315G>T g.202942187G>T ADIPOR1(NM_001290557.1):c.837C>A (p.V279=) - ADIPOR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885C>G r.(?) p.(=) Unknown - likely benign g.202911267G>C g.202942139G>C ADIPOR1(NM_001290557.1):c.885C>G (p.T295=) - ADIPOR1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.929A>G r.(?) p.(Tyr310Cys) Maternal (confirmed) - likely pathogenic g.202911223T>C g.202942095T>C ADIPOR1 c.929A > G (p.Y310C) - ADIPOR1_000012 heterozygous; adipor1 expression in a zebrafish model with morpholino preferentially reduced the number of rod photoreceptors, with no effect on the number of cones, a phenotype that is characteristic of RP, partially rescued by injecting wild-type, but not mutant, human ADIPOR1 mRNA PubMed: Zhang 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole exome sequencing retinal disease V:6 PubMed: Zhang 2016 Chinese family, proband's son M - China Han Chinese - - - - 1 LOVD
+?/. - c.929A>G r.(?) p.(Tyr310Cys) Paternal (confirmed) - likely pathogenic g.202911223T>C g.202942095T>C ADIPOR1 c.929A > G (p.Y310C) - ADIPOR1_000012 heterozygous; adipor1 expression in a zebrafish model with morpholino preferentially reduced the number of rod photoreceptors, with no effect on the number of cones, a phenotype that is characteristic of RP, partially rescued by injecting wild-type, but not mutant, human ADIPOR1 mRNA PubMed: Zhang 2016 - - Germline yes - - - - DNA SEQ - - retinal disease V:8 PubMed: Zhang 2016 Chinese family, proband's brother's daughter F - China Han Chinese - - - - 1 LOVD
+?/. - c.929A>G r.(?) p.(Tyr310Cys) Maternal (confirmed) - likely pathogenic g.202911223T>C g.202942095T>C ADIPOR1 c.929A > G (p.Y310C) - ADIPOR1_000012 heterozygous; adipor1 expression in a zebrafish model with morpholino preferentially reduced the number of rod photoreceptors, with no effect on the number of cones, a phenotype that is characteristic of RP, partially rescued by injecting wild-type, but not mutant, human ADIPOR1 mRNA PubMed: Zhang 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole exome sequencing retinal disease IV:1 PubMed: Zhang 2016 Chinese family, proband's mother's sister's son M - China Han Chinese - - - - 1 LOVD
+?/. - c.929A>G r.(?) p.(Tyr310Cys) Maternal (confirmed) - likely pathogenic g.202911223T>C g.202942095T>C ADIPOR1 c.929A > G (p.Y310C) - ADIPOR1_000012 heterozygous; adipor1 expression in a zebrafish model with morpholino preferentially reduced the number of rod photoreceptors, with no effect on the number of cones, a phenotype that is characteristic of RP, partially rescued by injecting wild-type, but not mutant, human ADIPOR1 mRNA PubMed: Zhang 2016 - - Germline yes - - - - DNA SEQ - - retinal disease IV:3 PubMed: Zhang 2016 Chinese family, proband's mother's sister's daughter F - China Han Chinese - - - - 1 LOVD
+?/. - c.929A>G r.(?) p.(Tyr310Cys) Maternal (confirmed) - likely pathogenic g.202911223T>C g.202942095T>C ADIPOR1 c.929A > G (p.Y310C) - ADIPOR1_000012 heterozygous; adipor1 expression in a zebrafish model with morpholino preferentially reduced the number of rod photoreceptors, with no effect on the number of cones, a phenotype that is characteristic of RP, partially rescued by injecting wild-type, but not mutant, human ADIPOR1 mRNA PubMed: Zhang 2016 - - Germline yes - - - - DNA SEQ - - retinal disease IV:7 PubMed: Zhang 2016 Chinese family, proband F - China Han Chinese - - - - 1 LOVD
+?/. - c.929A>G r.(?) p.(Tyr310Cys) Maternal (confirmed) - likely pathogenic g.202911223T>C g.202942095T>C ADIPOR1 c.929A > G (p.Y310C) - ADIPOR1_000012 heterozygous; adipor1 expression in a zebrafish model with morpholino preferentially reduced the number of rod photoreceptors, with no effect on the number of cones, a phenotype that is characteristic of RP, partially rescued by injecting wild-type, but not mutant, human ADIPOR1 mRNA PubMed: Zhang 2016 - - Germline yes - - - - DNA SEQ - - retinal disease IV:10 PubMed: Zhang 2016 Chinese family, proband's brother M - China Han Chinese - - - - 1 LOVD
+?/. - c.929A>G r.(?) p.(Tyr310Cys) Paternal (inferred) - likely pathogenic g.202911223T>C g.202942095T>C ADIPOR1 c.929A > G (p.Y310C) - ADIPOR1_000012 heterozygous; adipor1 expression in a zebrafish model with morpholino preferentially reduced the number of rod photoreceptors, with no effect on the number of cones, a phenotype that is characteristic of RP, partially rescued by injecting wild-type, but not mutant, human ADIPOR1 mRNA PubMed: Zhang 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole exome sequencing retinal disease III:3 PubMed: Zhang 2016 Chinese family, proband's mother's sister F - China Han Chinese - - - - 1 LOVD
+?/. - c.929A>G r.(?) p.(Tyr310Cys) Paternal (inferred) - likely pathogenic g.202911223T>C g.202942095T>C ADIPOR1 c.929A > G (p.Y310C) - ADIPOR1_000012 heterozygous; adipor1 expression in a zebrafish model with morpholino preferentially reduced the number of rod photoreceptors, with no effect on the number of cones, a phenotype that is characteristic of RP, partially rescued by injecting wild-type, but not mutant, human ADIPOR1 mRNA PubMed: Zhang 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole exome sequencing retinal disease III:6 PubMed: Zhang 2016 Chinese family, proband's mother F - China Han Chinese - - - - 1 LOVD
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