Full data view for gene ADIPOR1

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 2 c.31del - r.(?) p.(Gln11Argfs*24) Both (homozygous) g.202920168del - - - ADIPOR1_000001 - - - - Unknown ? - - 0 - DNA SEQ-NG-I - - retinal degeneration - - - M yes India South Asian - 0 27y - 1 Mingchu Xu
-/. - c.822T>C benign r.(=) p.(=) Unknown g.202911330A>G - ADIPOR1:c.822T>C (=) - ADIPOR1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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