Full data view for gene SOX5

Information The variants shown are described using the NM_152989.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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_18_ c.-374_*1922{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_14536128)_(26629029_?)del g.(?_14383194)_(26476095_?)del hg18 14427395-26520296del - SOX5_000059 12.09Mb deletion PubMed: Lamb 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD Pat10 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. _1_18_ c.-374_*1922{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_14804882)_(25254269_?)del g.(?_14651948)_(25101335_?)del hg18 14696149-25145536del - SOX5_000059 10.45Mb deletion PubMed: Lamb 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD Pat11 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. _1_18_ c.-374_*1922{0} r.0 p.0 Unknown - pathogenic (dominant) g.(17864393_17894465)_(26692082_26741165)del g.(17711459_17741531)_(26539148_26588231)del hg18 (17755660-17785732)_(26583349-26632432)del - SOX5_000059 8.80Mb deletion; variant not maternal PubMed: Lamb 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD Pat12 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. _1_18_ c.-374_*1922{0} r.0 p.0 Unknown - pathogenic (dominant) g.(17864393_17894465)_(26692082_26741165)del g.(17711459_17741531)_(26539148_26588231)del hg18 (17755660-17785732)_(26583349-26632432)del - SOX5_000059 8.80Mb deletion PubMed: Lamb 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD Pat13 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. _1_18_ c.-374_*1922{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_23196409)_(28854070_?)del g.(?_23043475)_(28701136_?)del hg18 23087676-28745337del - SOX5_000059 5.66Mb deletion PubMed: Lamb 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD Pat14 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. _1_18_ c.-374_*1922{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_17894465)_(26692142_?)del g.(?_17741531)_(26539208_?)del hg18 17785732-26583409del - SOX5_000059 8.80Mb deletion PubMed: Lamb 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD - PubMed: Lamb 2012 patient - - - - - - - - 1 Johan den Dunnen
+/. _1_18_ c.-374_*1922{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_17894465)_(26692142_?)del g.(?_17741531)_(26539208_?)del hg18 17785732-26583409del - SOX5_000059 8.80Mb deletion PubMed: Lamb 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD - PubMed: Lamb 2012 patient - - - - - - - - 1 Johan den Dunnen
+/. _1_18_ c.-374_*1922{0} r.0 p.0 Unknown - pathogenic g.(?_21958108)_(24715383_?)del g.(?_21805174)_(24562449_?)del 12p12.2p12.1 deletion - SOX5_000059 - PubMed: Moon 2021 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - gene panel retinal disease Pat90 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. _1_18_ c.-374_*1922{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_22421864)_(24678010_?)del g.(?_22268930)_(24525076_?)del - hg19 22,421,864-24,678,010x1 SOX5_000059 2.26 Mb deletion incl. 4 genes PubMed: Schanze 2013 - - De novo - - - - - DNA arraySNP - - ID Pat1 PubMed: Schanze 2013 2-generation family, 1 affected, unaffected non-carrier parents M no Germany - - - - - 1 Johan den Dunnen
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