Full data view for gene SGCD

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000337.5 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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     
?/. 1 c.-94C>G r.(?) p.(=) Unknown - VUS g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Honda 2007 - rs13170573 Germline - - - - - DNA TaqMan - - CMD - PubMed: Honda 2007 frequency hypertrophic cardiomyopathy patients with coronary spastic angina 17/31 GG, 12/31 GC and 2/31 CC - in CMH patients without CSA 26/31, 7/31 and 0/31 - - Japan - - - - - 1 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Paternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 12/23 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Triquis - - - - 12 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Maternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 12/23 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Triquis - - - - 12 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Paternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 5/24 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mayas - - - - 5 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Maternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 5/24 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mayas - - - - 5 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Paternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 6/25 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Zapotecos - - - - 6 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Maternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 6/25 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Zapotecos - - - - 6 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Paternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 13/41 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Nahuas - - - - 13 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Maternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 13/41 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Nahuas - - - - 13 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Paternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 12/52 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mixtecos - - - - 12 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Maternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 12/52 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mixtecos - - - - 12 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Paternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 19/100 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mestizos - - - - 19 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Maternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 19/100 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mestizos - - - - 19 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Parent #1 - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 7/23 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Triquis - - - - 7 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Parent #1 - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 12/12 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mayas - - - - 12 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Parent #1 - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 11/25 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Zapotecos - - - - 11 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Parent #1 - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 18/41 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Nahuas - - - - 18 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Parent #1 - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 29/52 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mixtecos - - - - 29 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Parent #1 - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 53/100 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mestizos - - - - 53 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Paternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 father homozygous, mother heterozygous - - - Germline - - - - - DNA SEQ - - LGMD private email contact me for details - F no India - >25y - - - 1 Johan den Dunnen
?/. 1 c.-94C>G r.(?) p.(=) Maternal (inferred) - VUS g.155754192C>G g.156327182C>G - - SGCD_000027 father homozygous, mother heterozygous - - - Germline - - - - - DNA SEQ - - LGMD private email contact me for details - F no India - >25y - - - 1 Johan den Dunnen
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