Full data view for gene BSCL2

BSCL2-seipinopathies variation databases - curated by the neurogenetics and metabolic-thyroid disease groups, Instituto de Investigaciones Sanitarias de Santiago de Compostela (IDIS-SERGAS), Spain.
This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_001122955.3 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
Legend   How to query  

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     
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - - - DNA SEQ - - SPG17 - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - - - DNA SEQ - - SPG17 - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - - - DNA SEQ - - SPG17 - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - - - DNA SEQ - - SPG17 - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - - - DNA SEQ - - SPG17 - PubMed: Windpassinger 2004 - - - United Kingdom (Great Britain) - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Italy - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: van de Warrenburg 2006 - rs137852972 Germline yes - - - - DNA SEQ - - SPG17 - PubMed: van de Warrenburg 2006 3generation family, 5 affecteds - no Netherlands - - - - - 5 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: van de Warrenburg 2006 - rs137852972 Germline yes - - - - DNA SEQ - - SPG17 - PubMed: van de Warrenburg 2006 4generation family, 7 affecteds - no Netherlands - - - - - 7 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Unknown - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Bienfait 2007 - rs137852972 Unknown ? - - - - DNA SEQ - - SPG17 - PubMed: Bienfait 2007 1 affected ? ? Netherlands - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Rohkamm 2007 - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - PubMed: Rohkamm 2007 - - ? Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Rohkamm 2007 - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - PubMed: Rohkamm 2007 - M ? Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Rohkamm 2007 - rs137852972 Germline yes - - - - DNA SEQ - - SPG17 - PubMed: Rohkamm 2007 - F ? United Kingdom (Great Britain) African - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (Asn88Ser) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site - - rs137852972 Germline yes - - - - DNA SEQ - - SPG17 - - - - - Spain - - - - - 5 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (Asn88Ser) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site - - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - - - - - Spain - - - - - 2 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Irobi et al., Brain 2004 - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - PubMed: Irobi et al., 2004 5 generation family, 12 mutationpositive reported - no Italy - - - - - 12 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Brusse et al., Neurogenetics 2009 - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - PubMed: Brusse et al., Neurogenetics 2009 4 generation family, 11 mutationpositive reported - no Netherlands - - - - - 11 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Cafforio et al., Neurol. Sci. 2008 - rs137852972 Germline ? - - - - DNA SEQ - - SPG17 - PubMed: Cafforio et al., Neurol. Sci. 2008 2 generation family, 2 mutation positive reported - ? Italy - - - - - 2 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Chen et al., Neuropathology 2009 - rs137852972 Germline yes - - - - DNA SEQ - - HMN5A - PubMed: Chen et al., Neuropathology 2009 4 generation family, 5 mutation positive reported - ? China - - - - - 5 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Dierick et al., Brain 2008 - rs137852972 Germline ? - - - - DNA SEQ - - HMN5A - PubMed: Dierick et al., Brain 2008 - ? ? - - - - - - 1 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Dierick et al., Brain 2008 - rs137852972 Germline ? - - - - DNA SEQ - - HMN5A - PubMed: Dierick et al., Brain 2008 - ? ? Poland - - - - - 1 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Kochanski et al., Neurol. Neurochir. 2007 - rs137852972 Unknown ? - - - - DNA SEQ - - SPG17 - PubMed: Kochanski et al., Neurol. Neurochir. 2007 3 generation family, 1 mutation positive reported M ? Poland - - - - - 1 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Rakocevic-Stojanovic et al., J. Neurol. Sci. 2010 - rs137852972 Germline yes - - - - DNA SEQ - - SPG17 - PubMed: RakocevicStojanovic et al., J. Neurol. Sci. 2010 5 generation family, 3 mutation positive reported - no - - - - - - 3 María-Jesús Sobrido
+/. - c.455A>G r.(?) p.(Asn152Ser) Unknown - pathogenic g.62469971T>C g.62702499T>C BSCL2(NM_001122955.4):c.455A>G (p.N152S), BSCL2(NM_032667.6):c.263A>G (p.N88S) - BSCL2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.455A>G r.(?) p.(Asn152Ser) Unknown - pathogenic g.62469971T>C g.62702499T>C BSCL2(NM_001122955.4):c.455A>G (p.N152S), BSCL2(NM_032667.6):c.263A>G (p.N88S) - BSCL2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.455A>G r.(?) p.(Asn152Ser) Unknown - pathogenic (dominant) g.62469971T>C g.62702499T>C NM_032667.6:c.263A>G - BSCL2_000005 - PubMed: Antoniadi 2015 - rs137852972 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 Pat-BSCL2-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.455A>G r.(?) p.(Asn152Ser) Unknown - pathogenic (dominant) g.62469971T>C g.62702499T>C NM_032667.6:c.263A>G - BSCL2_000005 - PubMed: Antoniadi 2015 - rs137852972 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 Pat-BSCL2-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.455A>G r.(?) p.(Asn152Ser) Paternal (confirmed) - pathogenic g.62469971T>C g.62702499T>C - - BSCL2_000005 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ - clincal WES SPG Pat48 PubMed: Thomas 2022 patient, affected father and daughter - no France - - - - - 3 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.