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.

38 entries on 1 page. Showing entries 1 - 38.
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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     
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 8generation family, 20 affecteds - yes Lebanon - - - - - 20 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #2 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 8generation family, 20 affecteds - yes Lebanon - - - - - 20 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 8generation family, >33 unaffected carriers - yes Lebanon - - - - - 33 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 6generation family, 4 affecteds - yes Lebanon - - - - - 4 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #2 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 6generation family, 4 affecteds - yes Lebanon - - - - - 4 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 6generation family, 6 unaffecteds - yes Lebanon - - - - - 6 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 4generation family, 2 affecteds - yes Lebanon - - - - - 2 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #2 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 4generation family, 2 affecteds - yes Lebanon - - - - - 2 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 4generation family, unaffected carrier parents - yes Lebanon - - - - - 2 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 4generation family, 2 affecteds - yes Lebanon - - - - - 2 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #2 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 4generation family, 2 affecteds - yes Lebanon - - - - - 2 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 4generation family, unaffected carrier parents - yes Lebanon - - - - - 2 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 4generation family, 1 affected - yes Lebanon - - - - - 1 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #2 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 4generation family, 1 affected - yes Lebanon - - - - - 1 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 4generation family, 4 unaffected carriers - yes Lebanon - - - - - 4 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Agarwal 2003 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 2generation family, 1 affected M yes United States Lebanese - - - - 1 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #2 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Agarwal 2003 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 2generation family, 1 affected M yes United States Lebanese - - - - 1 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Agarwal 2003 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 4generation family, 3 affected M yes United States Lebanese - - - - 1 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #2 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Agarwal 2003 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 4generation family, 3 affected M yes United States Lebanese - - - - 1 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Agarwal 2003 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 4generation family, 3 affected F yes United States Lebanese - - - - 1 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #2 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Agarwal 2003 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 4generation family, 3 affected F yes United States Lebanese - - - - 1 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Agarwal 2003 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 4generation family, 3 affected M yes United States Lebanese - - - - 1 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #2 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Agarwal 2003 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 4generation family, 3 affected M yes United States Lebanese - - - - 1 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Agarwal 2003 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 2generation family, 1 affected M no United States Lebanese - - - - 1 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #2 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Agarwal 2003 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 2generation family, 1 affected M no United States Lebanese - - - - 1 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Agarwal 2003 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 2generation family, 1 affected M no United States Lebanese - - - - 1 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Parent #2 - pathogenic g.62462160_62462164del g.62694688_62694692del 659delGTATC (F105fsX111) - BSCL2_000042 - PubMed: Agarwal 2003 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 2generation family, 1 affected M no United States Lebanese - - - - 1 María-Jesús Sobrido
?/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Unknown - VUS g.62462160_62462164del g.62694688_62694692del Y106CfsX6 - BSCL2_000042 - PubMed: Boutet et al., Biochimie 2009 - - Unknown ? - - - - DNA SEQ - - CGL2 - PubMed: Boutet et al., Biochimie 2009 8 affected - ? Lebanon - - - - - 8 María-Jesús Sobrido
?/? 4 c.509_513del r.(?) p.(Tyr170CysfsTer6) Unknown - VUS g.62462160_62462164del g.62694688_62694692del 659delGTATC - BSCL2_000042 - PubMed: Raygada et al., Clin. Genet. 2005 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Raygada et al., Clin. Genet. 2005 2 affected - yes Lebanon - - - - - 2 María-Jesús Sobrido
+/? 4 c.509_513del r.(?) p.(Tyr170Cysfs*6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 507_511del - BSCL2_000042 - PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Guillen-Navarro 2013 4-generation family, unaffected carrier F no Spain - - - - - 1 Johan den Dunnen
+/? 4 c.509_513del r.(?) p.(Tyr170Cysfs*6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 507_511del - BSCL2_000042 - PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Guillen-Navarro 2013 4-generation family, unaffected carrier M no Spain - - - - - 1 Johan den Dunnen
+/? 4 c.509_513del r.(?) p.(Tyr170Cysfs*6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 507_511del - BSCL2_000042 - PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Guillen-Navarro 2013 4-generation family, unaffected carrier F no Spain - - - - - 1 Johan den Dunnen
+/? 4 c.509_513del r.(?) p.(Tyr170Cysfs*6) Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 507_511del - BSCL2_000042 - PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Guillen-Navarro 2013 4-generation family, unaffected carrier F no Spain - - - - - 1 Johan den Dunnen
+/? 4 c.509_513del r.(?) p.(Tyr170Cysfs*6) Maternal (confirmed) - pathogenic g.62462160_62462164del g.62694688_62694692del 507_511del - BSCL2_000042 - PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Guillen-Navarro 2013 4-generation family, unaffected carrier F no Spain - - - - - 1 Johan den Dunnen
+/? 4 c.509_513del r.(?) p.(Tyr170Cysfs*6) Maternal (confirmed) - pathogenic g.62462160_62462164del g.62694688_62694692del 507_511del - BSCL2_000042 - PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Guillen-Navarro 2013 4-generation family, unaffected carrier M no Spain - - - - - 1 Johan den Dunnen
+/? 4 c.509_513del r.(?) p.(Tyr170Cysfs*6) Paternal (confirmed) - pathogenic g.62462160_62462164del g.62694688_62694692del 507_511del - BSCL2_000042 - PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Guillen-Navarro 2013 4-generation family, affected male patient 3 M no Spain - 7y - - - 1 Johan den Dunnen
+/? 4 c.509_513del r.(?) p.(Tyr170Cysfs*6) Paternal (confirmed) - pathogenic g.62462160_62462164del g.62694688_62694692del 507_511del - BSCL2_000042 - PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Guillen-Navarro 2013 4-generation family, affected male patient 4 M no Spain - 7y - - - 1 Johan den Dunnen
+/? 4 c.509_513del r.(?) p.(Tyr170Cysfs*6) Paternal (confirmed) - pathogenic g.62462160_62462164del g.62694688_62694692del 507_511del - BSCL2_000042 - PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Guillen-Navarro 2013 4-generation family, affected female patient 5 F no Spain - >4y - - - 1 Johan den Dunnen
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