Full data view for gene RTN4IP1

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

25 entries on 1 page. Showing entries 1 - 25.
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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     
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family I, II-3 PubMed: Angebault 2015 PubMed: Meunier 2020 Patient II-3 from Family I: 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Morocco - >45y - - - 2 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family I, II-4 PubMed: Angebault 2015 Brother of Patient II4 M yes Morocco - >52y - - - 1 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015 - - Germline/De novo (untested) ? - - - - DNA SEQ - - neuropathy, optic Family II, II-1 PubMed: Angebault 2015 Patient II-1 from Family II: 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes France Romani >25y - - - 1 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ - - neuropathy, optic Family III, II-5 (2015) / Family 2, II-5 (2020) PubMed: Angebault 2015 PubMed: Meunier 2020 Patient named as Family III, II-5 in article by Angebault et al. (2015), and as Family 2, II-5 in article by Meunier et al. (2020): 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes France Romani >23y - - - 1 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Paternal (confirmed) - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ - - neuropathy, optic Family IV, II-2 (2015) / Family 4, II-2 (2020) PubMed: Angebault 2015 PubMed: Meunier 2020 Patient named as Family IV, II-2 in article by Angebault et al. (2015), and as Family 4, II-2 in article by Meunier et al. (2020): 2-generation family, 2 sisters, unaffected heterozygous carrier parents F no - - >14y - - - 2 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Paternal (confirmed) - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ - - neuropathy, optic Family IV, II-3 (2015) / Family 4, II-3 (2020) PubMed: Angebault 2015 PubMed: Meunier 2020 Patient named as Family IV, II-3 in article by Angebault et al. (2015), and as Family 4, II-3 in article by Meunier et al. (2020) F no - - >12y - - - 1 Pieter Klap
+/. - c.308G>A r.(?) p.(Arg103His) Paternal (confirmed) - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Okamoto 2017 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Patient I PubMed: Okamoto 2017 - M no Japan - - - - - 2 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Paternal (confirmed) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Okamoto 2017 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Patient II PubMed: Okamoto 2017 - M no Japan - - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Charif 2018 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1 PubMed: Charif 2018 - M yes France Romani - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Charif 2018 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 2-1 PubMed: Charif 2018 - F yes France Romani - - - - 2 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Charif 2018 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 2-2 PubMed: Charif 2018 - F yes France Romani - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Charif 2018 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 3 PubMed: Charif 2018 - M yes France Romani - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Charif 2018 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 4 PubMed: Charif 2018 - M yes France Romani - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 3, II-4 PubMed: Meunier 2020 - M yes France Romani - - - - 3 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 3, II-5 PubMed: Meunier 2020 - M yes France Romani - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 3, III-2 PubMed: Meunier 2020 - F yes France Romani - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Giacomini 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Giacomini 2020 - M no Italy - - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Parent #1 - pathogenic (recessive) g.107070811C>T - ND1 m.12338T>C+RTN4IP1 c.308G>A, Het - RTN4IP1_000001 Variant associated with a variant in mitochondrial DNA (MT-ND5:c.2T>C / m.12338T>C) PubMed: Li 2020 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Li 2020 - ? - China - - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - Angers (under submission) - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - F yes France - - - - - 3 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - Angers (under submission) - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - M yes France - - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - Angers (under submission) - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - F yes France - - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Unknown - pathogenic g.107070811C>T - RTN4IP1(NM_032730.5):c.308G>A (p.R103H) - RTN4IP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.308G>A r.(?) p.(Arg103His) Parent #1 - likely pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 ACMG PS1, PM2, PP1, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F128P136II-2 PubMed: Zheng 2024 - M - China - - - - - 1 Johan den Dunnen
+?/. - c.308G>A r.(?) p.(Arg103His) Parent #1 - likely pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 ACMG PS1, PM2, PP1, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F129P137II-1 PubMed: Zheng 2024 - M - China - - - - - 1 Johan den Dunnen
+?/. - c.308G>A r.(?) p.(Arg103His) Parent #2 - likely pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 ACMG PS1, PM2, PP1, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F129P137II-1 PubMed: Zheng 2024 - M - China - - - - - 1 Johan den Dunnen
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