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.

11 entries on 1 page. Showing entries 1 - 11.
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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.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 6generation family, 1 affected M yes Norway - - - - - 1 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 6generation family, 3 unaffected carriers - yes Norway - - - - - 3 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 3generation family, 1 affected M no Norway - - - - - 1 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) Parent #2 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 3generation family, 1 affected M no Norway - - - - - 1 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 3generation family, 3 unaffected carriers - no Norway - - - - - 3 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 6generation family, 1 affected M yes Italy - - - - - 1 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) Parent #2 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 6generation family, 1 affected M yes Italy - - - - - 1 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline ? - - - - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 6generation family, 3 unaffected carriers - yes Italy - - - - - 3 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 2generation family, 2 affecteds - no United Kingdom (Great Britain) - - - - - 2 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 2generation family, 2 unaffected carrier parents - no United Kingdom (Great Britain) - - - - - 2 María-Jesús Sobrido
?/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) Unknown - VUS g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC V99IfsX49 - BSCL2_000044 - PubMed: Boutet et al., Biochimie 2009 - - Unknown ? - - - - DNA SEQ - - CGL2 - PubMed: Boutet et al., Biochimie 2009 2 affected - ? Portugal - - - - - 2 María-Jesús Sobrido
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