All transcript variants in gene ADIPOR1

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

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
+?/. 2 c.31del - r.(?) p.(Gln11Argfs*24) g.202920168del - - - ADIPOR1_000001 - - - - Unknown ? - - 0 - Mingchu Xu
-?/. - c.126C>T likely benign r.(?) p.(=) g.202920073G>A - ADIPOR1(NM_001290557.1):c.126C>T (p.I42=) - ADIPOR1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.199C>G VUS r.(?) p.(Leu67Val) g.202917491G>C - - - ADIPOR1_000004 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1203 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
?/. - c.259-14T>C VUS r.(=) p.(=) g.202915752A>G - ADIPOR1(NM_001290557.1):c.259-14T>C - ADIPOR1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.322G>A VUS r.(?) p.(Asp108Asn) g.202915675C>T - - - ADIPOR1_000003 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs749789403 Germline - 1/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
-?/. - c.576C>T likely benign r.(?) p.(=) g.202914152G>A - ADIPOR1(NM_001290557.1):c.576C>T (p.T192=) - ADIPOR1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.822T>C benign r.(?) p.(=) g.202911330A>G - ADIPOR1(NM_001290557.1):c.822T>C (p.L274=) - ADIPOR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.837C>A likely benign r.(?) p.(=) g.202911315G>T - ADIPOR1(NM_001290557.1):c.837C>A (p.V279=) - ADIPOR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.885C>G likely benign r.(?) p.(=) g.202911267G>C - ADIPOR1(NM_001290557.1):c.885C>G (p.T295=) - ADIPOR1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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