Unique variants in the RTN4IP1 gene

A database from the MITOchondrial DYNamics variation portal.
Information The variants shown are described using the NM_032730.4 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 1 - c.-936_*32845del r.0? p.0? - pathogenic (recessive) g.106987026_107077832del - hg19 chr6:106,987,026–107,077,832 - RTN4IP1_000016 - PubMed: Rajabian 2020 - - Germline yes - - - - Aude Rocatcher
-/. 1 - c.-701G>A r.(?) p.(=) - benign g.107077597C>T g.106629722C>T - - QRSL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.129G>A r.(?) p.(Met43Ile) - pathogenic (recessive) g.107076768C>T - - - RTN4IP1_000006 - PubMed: Charif 2018 - - Germline/De novo (untested) - - - - - Aude Rocatcher
+/. 1 - c.152A>G r.(?) p.(Tyr51Cys) - pathogenic (recessive) g.107076745T>C - - - RTN4IP1_000007 - PubMed: Charif 2018 - - Germline/De novo (untested) - - - - - Aude Rocatcher
+/. 1 - c.263T>G r.(?) p.(Val88Gly) - pathogenic (recessive) g.107076634A>C - - - RTN4IP1_000015 - PubMed: D'Gama 2021 - - Germline yes - - - - Aude Rocatcher
+/. 25 2 c.308G>A r.(?) p.(Arg103His) - pathogenic, pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - Angers (under submission), PubMed: Angebault 2015, PubMed: Angebault 2015 PubMed: Meunier 2020, 6 more items - - Germline, Germline/De novo (untested) yes - - - - Pieter Klap, Aude Rocatcher
+?/. 1 - c.313C>T r.(?) p.(Pro105Ser) - likely pathogenic (recessive) g.107070806G>A - - - RTN4IP1_000009 - PubMed: Charif 2018 - - Germline/De novo (untested) - - - - - Aude Rocatcher
+/. 1 - c.314C>A r.(?) p.(Pro105His) - pathogenic (recessive) g.107070805G>T - - - RTN4IP1_000013 - PubMed: Charif 2018 - - Germline/De novo (untested) - - - - - Aude Rocatcher
-/. 1 - c.426+16C>T r.(=) p.(=) - benign g.107070677G>A g.106622802G>A RTN4IP1(NM_032730.5):c.426+16C>T - QRSL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 - c.432G>A r.(?) p.(Trp144*) - pathogenic (recessive) g.107069363C>T - - - RTN4IP1_000011 - PubMed: Charif 2018, PubMed: Rajabian 2020 - - Germline yes - - - - Aude Rocatcher
+/. 1 - c.500C>T r.(?) p.(Ser167Phe) - pathogenic (recessive) g.107067197G>A - - - RTN4IP1_000014 - PubMed: Charif 2018 - - Germline yes - - - - Aude Rocatcher
+/. 4 4 c.601A>T r.(?) p.(Lys201*) - pathogenic, pathogenic (recessive) g.107067096T>A g.106619221T>A - - RTN4IP1_000002 - PubMed: Angebault 2015 PubMed: Meunier 2020, PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - - - Pieter Klap, Aude Rocatcher
+/. 3 - c.646G>A r.(?) p.(Gly216Arg) - pathogenic (recessive) g.107050772C>T - - - RTN4IP1_000005 - PubMed: Rajabian 2020, PubMed: Zou 2019 - - Germline yes - - - - Aude Rocatcher
?/. 1 - c.685G>T r.(?) p.(Asp229Tyr) - VUS g.107040160C>A - RTN4IP1(NM_032730.5):c.685G>T (p.D229Y) - QRSL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.750C>T r.(?) p.(Asp250=) - likely benign g.107040095G>A g.106592220G>A RTN4IP1(NM_032730.5):c.750C>T (p.D250=) - QRSL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 - c.806+1G>A r.spl, r.spl? p.? - pathogenic (recessive) g.107040038C>T g.106592163C>T - - RTN4IP1_000003 - PubMed: Charif 2018, PubMed: Okamoto 2017 - - De novo, Germline yes - - - - Aude Rocatcher
+/. 1 - c.962G>A r.(?) p.(Gly321Glu) - pathogenic (recessive) g.107035582C>T - - - RTN4IP1_000012 - PubMed: Charif 2018 - - Germline yes - - - - Aude Rocatcher
+?/. 1 - c.962G>C r.(?) p.(Gly321Ala) - likely pathogenic (recessive) g.107035582C>G - - - RTN4IP1_000018 - PubMed: Li 2020 - - Germline/De novo (untested) - - - - - Aude Rocatcher
+/. 1 - c.1015C>T r.(?) p.(Arg339Cys) - pathogenic (recessive) g.107031271G>A - - - RTN4IP1_000017 - PubMed: Li 2020 - - Germline/De novo (untested) - - - - - Aude Rocatcher
-?/. 1 - c.1031T>C r.(?) p.(Met344Thr) - likely benign g.107031255A>G g.106583380A>G RTN4IP1(NM_032730.5):c.1031T>C (p.M344T) - QRSL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1067T>C r.(?) p.(Leu356Pro) - pathogenic (recessive) g.107031219A>G - - - RTN4IP1_000010 - PubMed: Charif 2018 - - Germline yes - - - - Aude Rocatcher
?/. 1 - c.1073A>T r.(?) p.(Asp358Val) - VUS g.107031213T>A - RTN4IP1(NM_032730.5):c.1073A>T (p.D358V) - QRSL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1084A>T r.(?) p.(Ile362Phe) - pathogenic (recessive) g.107019978T>A - - - RTN4IP1_000008 - PubMed: Charif 2018 - - Germline/De novo (untested) - - - - - Aude Rocatcher
+/. 2 - c.1162C>T r.(?) p.(Arg388*) - pathogenic (recessive) g.107019900G>A - - - RTN4IP1_000004 - PubMed: Zou 2019 - - Germline yes - - - - Aude Rocatcher
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