Full data view for gene SPG7

A database from the MITOchondrial DYNamics variation portal.
Information The variants shown are described using the NM_003119.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.1529C>T r.(?) p.(Ala510Val) Unknown - pathogenic g.89613145C>T g.89546737C>T - - SPG7_000003 - PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - - Germline - - - - - DNA SEQ-NG - - SPG7 Pat1 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - F no Netherlands - - - - - 1 Erik-Jan Kamsteeg
+?/. - c.1529C>T r.(?) p.(Ala510Val) Unknown - likely pathogenic g.89613145C>T g.89546737C>T - - SPG7_000003 - PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - - Germline - - - - - DNA SEQ-NG - - SPG7 Pat2 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - - - - 1 Erik-Jan Kamsteeg
+?/. - c.1529C>T r.(?) p.(Ala510Val) Unknown - likely pathogenic g.89613145C>T g.89546737C>T - - SPG7_000003 - PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - - Germline - - - - - DNA SEQ-NG - - SPG7 Pat3 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - - - - 1 Erik-Jan Kamsteeg
+/. - c.1529C>T r.(?) p.(Ala510Val) Unknown - pathogenic g.89613145C>T g.89546737C>T SPG7(NM_001363850.1):c.1529C>T (p.A510V), SPG7(NM_003119.2):c.1529C>T (p.(Ala510Val)), SPG7(NM_003119.4):c.1529C>T (p.A510V) - SPG7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1529C>T r.(?) p.(Ala510Val) Unknown - pathogenic g.89613145C>T g.89546737C>T SPG7(NM_001363850.1):c.1529C>T (p.A510V), SPG7(NM_003119.2):c.1529C>T (p.(Ala510Val)), SPG7(NM_003119.4):c.1529C>T (p.A510V) - SPG7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1529C>T r.(?) p.(Ala510Val) Unknown - likely pathogenic g.89613145C>T g.89546737C>T - - SPG7_000003 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+?/. - c.1529C>T r.(?) p.Ala510Val Unknown ACMG likely pathogenic g.89613145C>T g.89546737C>T - - SPG7_000003 ACMG grading: PM3,PP3,PS4; reported in Berg 2013. Genet Med 15: 36; Bonn 2010. HumMutat 31: 617; Sanchez-Ferrero 2013. ClinGenet 83: 257; Brugman 2008. Neurology 71: 1500; Schlipf 2011. ClinGenet 80: 148 - - rs61755320 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
?/. - c.1529C>T r.(?) p.(Ala510Val) Parent #1 - VUS g.89613145C>T g.89546737C>T - - SPG7_000003 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61755320 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+?/. - c.1529C>T r.(?) p.(Ala510Val) Unknown ACMG likely pathogenic g.89613145C>T g.89546737C>T - - SPG7_000003 ACMG: PS4,PM3,PP3; no second variant detected in SPG7, probably not explaining phenotype; -; Berg et al. 2013. Genet Med 15: 36; Bonn et al. 2010. HumMutat 31: 617; Sanchez-Ferrero et al. 2013. ClinGenet 83: 257; Brugman et al. 2008. Neurology 71: 1500; Schlipf et al. 2011. ClinGenet 80: 148 - - rs61755320 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+?/. - c.1529C>T r.(?) p.(Ala510Val) Unknown ACMG likely pathogenic g.89613145C>T g.89546737C>T - - SPG7_000003 ACMG: PS4,PM3,PP3; -; Berg et al. 2013. Genet Med 15: 36; Bonn et al. 2010. HumMutat 31: 617; Sanchez-Ferrero et al. 2013. ClinGenet 83: 257; Brugman et al. 2008. Neurology 71: 1500; Schlipf et al. 2011. ClinGenet 80: 148 - - rs61755320 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+?/. - c.1529C>T r.(?) p.(Ala510Val) Unknown ACMG likely pathogenic g.89613145C>T g.89546737C>T - - SPG7_000003 ACMG: PS4,PM3,PP3; -; Berg et al. 2013. Genet Med 15: 36; Bonn et al. 2010. HumMutat 31: 617; Sanchez-Ferrero et al. 2013. ClinGenet 83: 257; Brugman et al. 2008. Neurology 71: 1500; Schlipf et al. 2011. ClinGenet 80: 148 - - rs61755320 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+?/. - c.1529C>T r.(?) p.(Ala510Val) Unknown ACMG likely pathogenic g.89613145C>T g.89546737C>T - - SPG7_000003 ACMG grading: PS4,PM3,PP3; no second variant detected in SPG7, no CNV in SPG7; Berg et al. 2013. Genet Med 15: 36; Bonn et al. 2010. HumMutat 31: 617; Sanchez-Ferrero et al. 2013. ClinGenet 83: 257; Brugman et al. 2008. Neurology 71: 1500; Schlipf et al. 2011. ClinGenet 80: 148 - - rs61755320 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+?/. - c.1529C>T r.(?) p.(Ala510Val) Unknown - likely pathogenic g.89613145C>T g.89546737C>T - - SPG7_000003 {PMID:Reiss 2003:12754701}, {DOI:Croci 2020:10.1038/s41431-020-0624-x} - - rs61755320 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.1529C>T r.(?) p.(Ala510Val) Unknown - pathogenic g.89613145C>T - SPG7(NM_001363850.1):c.1529C>T (p.A510V), SPG7(NM_003119.2):c.1529C>T (p.(Ala510Val)), SPG7(NM_003119.4):c.1529C>T (p.A510V) - SPG7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1529C>T r.(?) p.(Ala510Val) Unknown - pathogenic g.89613145C>T - SPG7(NM_001363850.1):c.1529C>T (p.A510V), SPG7(NM_003119.2):c.1529C>T (p.(Ala510Val)), SPG7(NM_003119.4):c.1529C>T (p.A510V) - SPG7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1529C>T r.(?) p.(Ala510Val) Parent #2 - pathogenic (recessive) g.89613145C>T g.89546737C>T - - SPG7_000003 - PubMed: Salinas 2020 VCV000042016.10 - Germline - - - - - DNA SEQ-NG - gene panel ? Pat52 PubMed: Salinas 2020 patient F - - - - - - - 1 Johan den Dunnen
+?/. 11 c.1529C>T r.(?) p.(Ala510Val) Paternal (inferred) ACMG likely pathogenic g.89613145C>T g.89546737C>T - - SPG7_000003 - - ClinVar-42016 rs61755320 Germline ? - - - - DNA SEQ-NG-I peripheral blood WES ataxia - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.1529C>T r.(?) p.(Ala510Val) Unknown ACMG VUS g.89613145C>T g.89546737C>T - - SPG7_000003 ACMG PM1, PM2, PP3; not in 142 controls PubMed: Horbacz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES scoliosis Pat39 PubMed: Horbacz 2025 patient, affected F - Poland - - - - - 1 Johan den Dunnen
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alias: paraplegin (PGN)


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