Full data view for gene SGCB

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000232.4 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.544A>C r.(?) p.(Thr182Pro) Both (homozygous) - VUS g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Ganapathy 2019 ClinVar-RCV000544134.1 rs751427686 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4766 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. 4 c.544A>C r.(?) p.(Thr182Pro) Parent #2 - VUS g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Ganapathy 2019 ClinVar-RCV000544134.1 rs751427686 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2583 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. - c.544A>C r.(?) p.(Thr182Pro) Both (homozygous) ACMG likely pathogenic (recessive) g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat114 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+?/. - c.544A>C r.(?) p.(Thr182Pro) Parent #1 ACMG likely pathogenic (recessive) g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat113 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/0005/B-4 PubMed: Karthikeyan 2024 - M no India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/0140/B-146 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, DMD, NEFH, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/0167/B-172 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/0231/B-253 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/0250/B-285 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, DMD, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/0513/B-590 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/0603/B-713 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/0663/B-792 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/0680/B-808 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/1016/DBI-861 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/1053/DBI-890 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, SYNE1, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/1055/DBI-893 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/1183/DBI-998 PubMed: Karthikeyan 2024 - M no India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, PLEC, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/1248/DBI-1046 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB DMD MDCRC/1374/DBI-1151 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB DMD MDCRC/1481/DBI-1228 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB DMD MDCRC/1568/DBI-1292 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, SGCB, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/0592/B-705 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, SGCB DMD MDCRC/1932/DBI-1551 PubMed: Karthikeyan 2024 - M no India - - - yes - 1 Lakshmi Bremadesam
+/. 4 c.544A>C r.(?) p.(Thr182Pro) Unknown - pathogenic g.52894973T>G g.52028807T>G - - SGCB_000154 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCB, SGCB, SYNE1 DMD MDCRC/1935/DBI-1555 PubMed: Karthikeyan 2024 - M no India - - - yes - 1 Lakshmi Bremadesam
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