Full data view for gene CASQ1

Information The variants shown are described using the NM_001231.4 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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     
+/. 6 c.731A>G r.(?) p.(Asp244Gly) Parent #1 - pathogenic g.160165766A>G g.160195976A>G - - CASQ1_000001 - PubMed: Rossi 2014, Journal: Rossi 2014, OMIM:var0001 - rs730882052 Germline yes - - - - DNA SEQ - - VMCQA - PubMed: Rossi 2014, Journal: Rossi 2014 2-generation family, affected father and son M no Italy - - - - - 2 Vincenzo Sorrentino
+/. 6 c.731A>G r.(?) p.(Asp244Gly) Parent #1 - pathogenic g.160165766A>G g.160195976A>G - - CASQ1_000001 not in 800 control chromosomes PubMed: Rossi 2014, Journal: Rossi 2014, OMIM:var0001 - rs730882052 Germline yes - - - - DNA SEQ - - VMCQA - PubMed: Rossi 2014, Journal: Rossi 2014 3-generation family, 5 affecteds (F, 4M); unaffected heterozygous carrier parents - no Italy - - - - - 5 Johan den Dunnen
+/. 6 c.731A>G r.(?) p.(Asp244Gly) Parent #1 - pathogenic g.160165766A>G g.160195976A>G - - CASQ1_000001 - PubMed: Rossi 2014, Journal: Rossi 2014, OMIM:var0001 - rs730882052 Germline yes - - - - DNA SEQ - - VMCQA - PubMed: Rossi 2014, Journal: Rossi 2014 3-generation family, 5 affecteds (4F, M) - no Italy - - - - - 5 Johan den Dunnen
+/. 6 c.731A>G r.(?) p.(Asp244Gly) Parent #1 - pathogenic g.160165766A>G g.160195976A>G - - CASQ1_000001 - PubMed: Rossi 2014, Journal: Rossi 2014, OMIM:var0001 - rs730882052 Germline yes - - - - DNA SEQ - - VMCQA - PubMed: Rossi 2014, Journal: Rossi 2014 2-generation family, affected mother and son - no Italy - - - - - 2 Johan den Dunnen
+/. 6 c.731A>G r.(?) p.(Asp244Gly) Unknown - pathogenic g.160165766A>G g.160195976A>G - - CASQ1_000001 - PubMed: Rossi 2014, Journal: Rossi 2014, OMIM:var0001 - rs730882052 Germline - - - - - DNA SEQ - - VMCQA - PubMed: Rossi 2014, Journal: Rossi 2014 sporadic patient M - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.731A>G r.(?) p.Asp244Gly Unknown - NA g.160165766A>G g.160195976A>G - - CASQ1_000001 cDNA-GFP expression cloning COS-7 cells shows markedly reduced ability in forming elongated polymers and formation of electron-dense SR vacuoles containing CASQ1 protein aggregates PubMed: Rossi 2014, Journal: Rossi 2014, OMIM:var0001 - rs730882052 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.731A>G r.731a>g p.Asp244Gly Parent #1 - pathogenic g.160165766A>G g.160195976A>G - - CASQ1_000001 not in 400 control chromosomes PubMed: Di Blasi 2015, Journal: Di Blasi 2015, OMIM:var0001 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - VMCQA - PubMed: Di Blasi 2015, Journal: Di Blasi 2015 2-generation family, 4 affecteds (2F, 2M) - yes Italy - - - - - 4 Johan den Dunnen
+/. 6 c.731A>G r.(?) p.(Asp244Gly) Maternal (confirmed) - pathogenic g.160165766A>G g.160195976A>G - - CASQ1_000001 - PubMed: Di Blasi 2015, Journal: Di Blasi 2015, OMIM:var0001 - - Germline yes - - - - DNA SEQ - - VMCQA - PubMed: Di Blasi 2015, Journal: Di Blasi 2015 3-generation family, 3 affecteds (mother, grandmother, daugther) F no Italy - - - - - 3 Johan den Dunnen
+/. 6 c.731A>G r.(?) p.(Asp244Gly) Paternal (confirmed) - pathogenic g.160165766A>G g.160195976A>G - - CASQ1_000001 - PubMed: Di Blasi 2015, Journal: Di Blasi 2015, OMIM:var0001 - - Germline yes - - - - DNA SEQ - - VMCQA - PubMed: Di Blasi 2015, Journal: Di Blasi 2015 3-generation family, 3 affecteds (3M) M no Italy - - - - - 3 Johan den Dunnen
+?/. - c.731A>G r.(?) p.(Asp244Gly) Unknown - likely pathogenic g.160165766A>G - - - CASQ1_000001 - - - rs730882052 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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