Full data view for gene SON

Information The variants shown are described using the NM_138927.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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     
+/. 3 c.5753_5756del r.(?) p.(Val1918Glufs*87) Unknown - pathogenic (dominant) g.34927290_34927293del g.33554984_33554987del - - SON_000003 reduced mRNA expression (NMD) PubMed: Zhu 2015, Journal: Zhu 2015, PubMed: Kim 2016, Journal: Kim 2016 - - De novo - - - - - DNA, RNA RT-PCR, SEQ - - ID Pat91;Pat03 PubMed: Zhu 2015, Journal: Zhu 2015, PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. 3 c.5753_5756del r.(?) p.(Val1918Glufs*87) Unknown - pathogenic g.34927290_34927293del g.33554984_33554987del - - SON_000003 reduced mRNA expression (NMD) PubMed: Kim 2016, Journal: Kim 2016 - - De novo - - - - - DNA, RNA RT-PCR, SEQ - - ID - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 3 c.5753_5756del r.(?) p.(Val1918Glufs*87) Unknown - pathogenic g.34927290_34927293del g.33554984_33554987del - - SON_000003 - PubMed: Kim 2016, Journal: Kim 2016 - - De novo - - - - - DNA SEQ - - ID - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 3 c.5753_5756del r.(?) p.(Val1918Glufs*87) Unknown - pathogenic g.34927290_34927293del g.33554984_33554987del - - SON_000003 - PubMed: Kim 2016, Journal: Kim 2016 - - De novo - - - - - DNA SEQ - - ID - PubMed: Kim 2016, Journal: Kim 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.5753_5756del r.(?) p.(Val1918GlufsTer87) Unknown - pathogenic g.34927290_34927293del g.33554984_33554987del SON(NM_138927.2):c.5753_5756delTTAG (p.V1918Efs*87), SON(NM_138927.4):c.5753_5756delTTAG (p.V1918Efs*87) - SON_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5753_5756del r.(?) p.(Val1918Glufs*87) Unknown - pathogenic (dominant) g.34927290_34927293del g.33554984_33554987del 5753_5756delTTAG - SON_000003 - PubMed: Takenouchi 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat PubMed: Takenouchi 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.5753_5756del r.(?) p.(Val1918Glufs*87) Unknown - pathogenic (dominant) g.34927290_34927293del g.33554984_33554987del 5753_5756delTTAG - SON_000003 - PubMed: Tokita 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Subject 1 PubMed: Tokita 2016 - F - - - - - - - 1 Johan den Dunnen
+/. 11 c.5753_5756del r.(?) p.(Val1918Glufs*87) Unknown - pathogenic (dominant) g.34927290_34927293del g.33554984_33554987del 5753_5756delTTAG - SON_000003 - PubMed: Tokita 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Subject 5 PubMed: Tokita 2016 - F - - - - - - - 1 Johan den Dunnen
+/. - c.5753_5756del r.(?) p.(Val1918Glufs*87) Unknown - pathogenic g.34927290_34927293del g.33554984_33554987del - - SON_000003 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - De novo - - - - - DNA SEQ-NG - - ZTTKS Pat1 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - 1 Alexander Dingemans
+/. - c.5753_5756del r.? p.(Val1918Glufs*87) Unknown - pathogenic g.34927290_34927293del g.33554984_33554987del - - SON_000003 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - De novo - - - - - DNA SEQ-NG - - ZTTKS Pat2 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - 1 Alexander Dingemans
+/. - c.5753_5756del r.? p.(Val1918Glufs*87) Unknown - pathogenic g.34927290_34927293del g.33554984_33554987del - - SON_000003 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - De novo - - - - - DNA SEQ-NG - - ZTTKS Pat3 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - 1 Alexander Dingemans
+/. - c.5753_5756del r.(?) p.(Val1918Glufs*87) Unknown - pathogenic g.34927290_34927293del g.33554984_33554987del - - SON_000003 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - Germline - - - - - DNA SEQ-NG - - ZTTKS Pat11 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - 1 Alexander Dingemans
+/. - c.5753_5756del r.(?) p.(Val1918Glufs*87) Unknown - pathogenic g.34927290_34927293del g.33554984_33554987del - - SON_000003 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - Germline - - - - - DNA SEQ-NG - - ZTTKS Pat13 PubMed: Dingemans 2022, Journal: Dingemans 2022 - F - - - - - - - 1 Alexander Dingemans
+/. - c.5753_5756del r.(?) p.(Val1918Glufs*87) Unknown - pathogenic g.34927290_34927293del g.33554984_33554987del - - SON_000003 - PubMed: Dingemans 2022, Journal: Dingemans 2022 - - Germline - - - - - DNA SEQ-NG - - ZTTKS Pat14 PubMed: Dingemans 2022, Journal: Dingemans 2022 - M - - - - - - - 1 Alexander Dingemans
+/. - c.5753_5756del r.(?) p.(Val1918GlufsTer87) Unknown - pathogenic g.34927290_34927293del - SON(NM_138927.2):c.5753_5756delTTAG (p.V1918Efs*87), SON(NM_138927.4):c.5753_5756delTTAG (p.V1918Efs*87) - SON_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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