All 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.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

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     
-/. - c.-701G>A r.(?) p.(=) - benign g.107077597C>T g.106629722C>T - - QRSL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 c.308G>A r.(?) p.(Arg103His) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - Pieter Klap
-/. - 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
+/. 4 c.601A>T r.(?) p.(Lys201*) - pathogenic g.107067096T>A g.106619221T>A - - RTN4IP1_000002 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - Pieter Klap
+/. 4 c.601A>T r.(?) p.(Lys201*) - pathogenic g.107067096T>A g.106619221T>A - - RTN4IP1_000002 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - Pieter Klap
?/. - 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
-?/. - 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
-?/. - 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
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