Full data view for gene RTN4IP1

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     

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     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-701G>A r.(?) p.(=) Unknown - benign g.107077597C>T g.106629722C>T - - QRSL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA arraySNP, SEQ - - ? 26593267-Fam1PatII3 PubMed: Angebault 2015, Journal: Angebault 2015 2-generation family, affected sister/brother, unaffected heterozygous carrier parents, PatII3 F yes Morocco - >41y 0 - - 2 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA arraySNP, SEQ - - ? 26593267-Fam1PatII4 PubMed: Angebault 2015, Journal: Angebault 2015 brother PatII4 M yes Morocco - >52y 0 - - 1 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA SEQ - - ? 26593267Fam2PatII1 PubMed: Angebault 2015, Journal: Angebault 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - (not applicable) Roma >25y 0 - - 1 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA SEQ - - ? 26593267-Fam3PatII5 PubMed: Angebault 2015, Journal: Angebault 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Roma >15y 0 - - 1 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Paternal (confirmed) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA SEQ - - ? 26593267-FamIVPatII2 PubMed: Angebault 2015, Journal: Angebault 2015 2-generation family, 2 sisters, unaffected heterozygous carrier parents, patII2 F no - - >14y 0 - - 2 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Paternal (confirmed) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA SEQ - - ? 26593267-FamIVPatII3 PubMed: Angebault 2015, Journal: Angebault 2015 PatII3 F no - - >12y 0 - - 1 Pieter Klap
-/. - c.426+16C>T r.(=) p.(=) Unknown - benign g.107070677G>A g.106622802G>A RTN4IP1(NM_032730.5):c.426+16C>T - QRSL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.601A>T r.(?) p.(Lys201*) Maternal (confirmed) - pathogenic g.107067096T>A g.106619221T>A - - RTN4IP1_000002 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA SEQ - - ? 26593267-FamIVPatII2 PubMed: Angebault 2015, Journal: Angebault 2015 2-generation family, 2 sisters, unaffected heterozygous carrier parents, patII2 F no - - >14y 0 - - 2 Pieter Klap
+/. 4 c.601A>T r.(?) p.(Lys201*) Maternal (confirmed) - pathogenic g.107067096T>A g.106619221T>A - - RTN4IP1_000002 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA SEQ - - ? 26593267-FamIVPatII3 PubMed: Angebault 2015, Journal: Angebault 2015 PatII3 F no - - >12y 0 - - 1 Pieter Klap
?/. - c.685G>T r.(?) p.(Asp229Tyr) Unknown - VUS g.107040160C>A - RTN4IP1(NM_032730.5):c.685G>T (p.D229Y) - QRSL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.750C>T r.(?) p.(Asp250=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1031T>C r.(?) p.(Met344Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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