Full data view for gene SATB1

Information The variants shown are described using the NM_001195470.1 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     
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic g.18393675C>T g.18352183C>T - - SATB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic (dominant) g.18393675C>T g.18352183C>T - - SATB1_000002 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat30 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic (dominant) g.18393675C>T g.18352183C>T - - SATB1_000002 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat31 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic (dominant) g.18393675C>T g.18352183C>T - - SATB1_000002 - Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD ?;Pat32 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic (dominant) g.18393675C>T g.18352183C>T - - SATB1_000002 - Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD ?;Pat33 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic (dominant) g.18393675C>T g.18352183C>T - - SATB1_000002 - Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD ?;Pat34 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic (dominant) g.18393675C>T g.18352183C>T - - SATB1_000002 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat35 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - pathogenic (dominant) g.18393675C>T g.18352183C>T - - SATB1_000002 - Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat36 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1588G>A r.(?) p.(Gly530Lys) Unknown - pathogenic (dominant) g.18393675C>T - - - SATB1_000002 - PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ-NG - WES NDD Pat37 PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
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