Full data view for gene SIN3B

Information The variants shown are described using the NM_015260.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.-23_*1626{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_16848440)_(17871985_?)del - 19: 16848440–17871985 - SIN3B_000002 1.02 Mb deletion PubMed: Latypova 2021, Journal: Latypova 2021 - - De novo - - - - - DNA arraySNP - - NDD Pat1-Decipher332280 PubMed: Latypova 2021, Journal: Latypova 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.-23_*1626{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_15978604)_(17500427_?)del - 19: 15978604–17500427 - SIN3B_000002 1.52 Mb deletion PubMed: Latypova 2021, Journal: Latypova 2021 - - De novo - - - - - DNA arraySNP - - NDD Pat2-Decipher262142 PubMed: Latypova 2021, Journal: Latypova 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.-23_*1626{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_16599950)_(17469382_?)del - 19: 16599950–17469382 - SIN3B_000002 869 kb deletion PubMed: Latypova 2021, Journal: Latypova 2021 - - De novo - - - - - DNA arraySNP - - NDD Pat3 PubMed: Latypova 2021, Journal: Latypova 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.-23_*1626{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_16456955)_(17333482_?)del - 19: 16456955–17333482 - SIN3B_000002 877 kb deletion PubMed: Latypova 2021, Journal: Latypova 2021 - - De novo - - - - - DNA arraySNP - - NDD Pat4 PubMed: Latypova 2021, Journal: Latypova 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.-23_*1626{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_16652215)_(17079033_?)del - 19: 16652215–17079033 - SIN3B_000002 427 kb deletion PubMed: Latypova 2021, Journal: Latypova 2021 - - De novo - - - - - DNA arraySNP - - NDD Pat5-Decipher308455 PubMed: Latypova 2021, Journal: Latypova 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.-23_*1626{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_16548375)_(17547292_?)del - 19: 16548375–17547292 - SIN3B_000002 0.99 Mb deletion PubMed: Aten 2009, PubMed: Latypova 2021, Journal: Latypova 2021 - - De novo - - - - - DNA arraySNP - - NDD Deciphe4101 PubMed: Aten 2009, PubMed: Latypova 2021, Journal: Latypova 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.-23_*1626{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_16611808)_(17733344_?)del - 19: 16611808–17733344 - SIN3B_000002 1.12 Mb deletion PubMed: Bens 2011, PubMed: Latypova 2021, Journal: Latypova 2021 - - De novo - - - - - DNA arraySNP - - NDD patient PubMed: Bens 2011, PubMed: Latypova 2021, Journal: Latypova 2021 2-generation family, 1 affected, unaffected non-carrier parents F - Germany - - - - - 1 Johan den Dunnen
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