Full data view for gene ADIPOR1

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

8 entries on 1 page. Showing entries 1 - 8.
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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     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - 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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