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.

34 entries on 1 page. Showing entries 1 - 34.
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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.517dup r.(?) p.(Thr173Asnfs*5) Parent #1 - pathogenic g.62462153dup g.62694681dup - - BSCL2_000048 - PubMed: Miranda 2009 - - Germline yes - - - - DNA SEQ - - CGL2 - - 2generation family, 1 affected M yes Brazil - - - - - 1 María-Jesús Sobrido
+/? 4 c.517dup r.(?) p.(Thr173Asnfs*5) Parent #2 - pathogenic g.62462153dup g.62694681dup - - BSCL2_000048 - PubMed: Miranda 2009 - - Germline yes - - - - DNA SEQ - - CGL2 - - 2generation family, 1 affected M yes Brazil - - - - - 1 María-Jesús Sobrido
+/? 4 c.517dup r.(?) p.(Thr173Asnfs*5) Parent #1 - pathogenic g.62462153dup g.62694681dup - - BSCL2_000048 - PubMed: Miranda 2009 - - Germline yes - - - - DNA SEQ - - Healthy/Control - - 2generation family, unaffected carrier parents - yes Brazil - - - - - 2 María-Jesús Sobrido
+/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Parent #1 - pathogenic g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 4generation family, 1 affected F yes South Africa Portugeuse - - - - 1 María-Jesús Sobrido
+/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Parent #2 - pathogenic g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 4generation family, 1 affected F yes South Africa Portugeuse - - - - 1 María-Jesús Sobrido
+/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Parent #1 - pathogenic g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 4generation family, 4 unaffected carriers - yes South Africa Portugeuse - - - - 4 María-Jesús Sobrido
+/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Parent #1 - pathogenic g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 2generation family, 1 affected F no South Africa Portugeuse - - - - 1 María-Jesús Sobrido
+/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Parent #2 - pathogenic g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 2generation family, 1 affected F no South Africa Portugeuse - - - - 1 María-Jesús Sobrido
+/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Parent #1 - pathogenic g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 2generation family, 3 unaffected carriers - no South Africa Portugeuse - - - - 3 María-Jesús Sobrido
+/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Parent #1 - pathogenic g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Agarwal 2003 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 3generation family, 1 affected F no Portugal white - - - - 1 María-Jesús Sobrido
+/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Parent #2 - pathogenic g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Agarwal 2003 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 3generation family, 1 affected F no Portugal white - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Bhayana et al., Clin. Genet. 2002 - - Germline - - - - - DNA SEQ - - CGL2 - PubMed: Bhayana et al., Clin. Genet. 2002 2 generation family , 1 affected F no Portugal white - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family M no Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 3 affected M no Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 3 affected F no Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 3 affected F yes Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 4 generation family, 2 affected M no Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 4 generation family, 2 affected M no Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 4 generation family, 3 affected M yes Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 4 generation family, 3 affected M yes Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 4 generation family, 3 affected F yes Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 1 affected M no Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 1 affected F no Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 1 affected F yes Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 2 affected F yes Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 2 affected F yes Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 2 affected F yes Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 2 affected F yes Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 1 affected F yes Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 1 affected F yes Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 1 affected F no Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 1 affected F yes Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 1 affected M no Brazil - - - - - 1 María-Jesús Sobrido
?/? 4 c.517dup r.(?) p.(Thr173AsnfsTer5) Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 1 affected M no Brazil - - - - - 1 María-Jesús Sobrido
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