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.

22 entries on 1 page. Showing entries 1 - 22.
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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     
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Paternal (inferred) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - CGL2 - PubMed: GuillenNavarro 2013 5generation family, 1 affected F no Spain - 8y - - - 1 Johan den Dunnen
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Maternal (inferred) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - CGL2 - PubMed: GuillenNavarro 2013 5generation family, 1 affected F no Spain - 8y - - - 1 Johan den Dunnen
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Parent #1 - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - Healthy/Control - - 5generation family, 6 asymptomatic carriers - no Spain - - - - - 6 Johan den Dunnen
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Parent #1 - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - Healthy/Control - - 3generation family, asymptomatic carrier mother F no Spain - - - - - 1 Johan den Dunnen
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Parent #1 - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - Healthy/Control - - 4generation family, 12 asymptomatic carriers - yes Spain - - - - - 12 Johan den Dunnen
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Paternal (inferred) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: GuillenNavarro 2013 4generation family, 1 affected F yes Spain - - - - - 1 Johan den Dunnen
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Maternal (inferred) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: GuillenNavarro 2013 4generation family, 1 affected F yes Spain - - - - - 1 Johan den Dunnen
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Maternal (confirmed) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: GuillenNavarro 2013 3generation family, 1 affected M no Spain - 8y - - - 1 Johan den Dunnen
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Parent #1 - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype 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
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Parent #1 - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype 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
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Parent #1 - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype 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
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Parent #1 - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype 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
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Paternal (confirmed) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype 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
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Paternal (confirmed) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype 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
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Maternal (confirmed) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype 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
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Maternal (confirmed) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype 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
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Maternal (confirmed) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype 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
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Paternal (confirmed) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype 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
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Paternal (confirmed) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype 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
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Maternal (confirmed) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype 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
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Maternal (confirmed) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype 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
+/? 7 c.985C>T r.(?) p.(Arg329Ter) Maternal (confirmed) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype 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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