Full data view for gene STAT1

Information The variants shown are described using the NM_007315.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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     
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) Parent #1 - pathogenic g.191859910C>T g.190995184C>T DNA change not specified - STAT1_000013 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0010 - - Germline - - - - - DNA SEQ - - IMD31C;CANDF7 - PubMed: Liu 2011 family, 6 affecteds, 4 no genetics - - France - - - - - 2 Johan den Dunnen
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) Parent #1 - pathogenic g.191859910C>T g.190995184C>T DNA change not specified - STAT1_000013 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0010 - - Germline - - - - - DNA SEQ - - IMD31C;CANDF7 - PubMed: Liu 2011 family, 2 affecteds - - Turkey - - - - - 2 Johan den Dunnen
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) Parent #1 - pathogenic g.191859910C>T g.190995184C>T DNA change not specified - STAT1_000013 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0010 - - Germline - - - - - DNA SEQ - - IMD31C;CANDF7 - PubMed: Liu 2011 family, 2 affecteds - - Japan - - - - - 2 Johan den Dunnen
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) Parent #1 - pathogenic g.191859910C>T g.190995184C>T DNA change not specified - STAT1_000013 gain-of-function (GOF) variant PubMed: Liu 2011, OMIM:var0010 - - Germline - - - - - DNA SEQ - - IMD31C;CANDF7 - PubMed: Liu 2011 family, 2 affecteds - - France - - - - - 2 Johan den Dunnen
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) Paternal (confirmed) - pathogenic g.191859910C>T g.190995184C>T - - STAT1_000013 gain-of-function (GOF) variant PubMed: Hori 2012 - - Germline - - - - - DNA SEQ - - IMD31C;CANDF7 - PubMed: Hori 2012 family, 2 affecteds F ? (Japan) - - - - - 2 Esther van de Vosse
+/+ 10 c.821G>A r.(?) p.(Arg274Gln) Unknown - pathogenic g.191859910C>T g.190995184C>T - - STAT1_000013 gain-of-function (GOF) variant PubMed: Soltesz 2013 - - Germline - - - - - DNA SEQ - - IMD31C;CANDF7 - PubMed: Soltesz 2013 family, 1 affected F ? Russian Federation - - - - - 1 Esther van de Vosse
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) Maternal (confirmed) - pathogenic g.191859910C>T g.190995184C>T - - STAT1_000013 gain-of-function (GOF) variant PubMed: Kataoka 2015 - - Germline - - - - - DNA ? - - IMD31C;CANDF7 - PubMed: Kataoka 2015 family, 2 affecteds M no Japan - - - - - 2 Esther van de Vosse
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) Unknown - pathogenic g.191859910C>T g.190995184C>T not specified - STAT1_000013 gain-of-function (GOF) variant PubMed: Zheng 2015 - - Germline - - - - - DNA ? - - IMD31C;CANDF7 - PubMed: Zheng 2015 family, 1 affected M ? Netherlands - - - - - 1 Esther van de Vosse
+/+? 10 c.821G>A r.(?) p.Arg274Gln Unknown - pathogenic g.191859910C>T g.190995184C>T - - STAT1_000013 gain-of-function (GOF) variant PubMed: Zerbe 2016 - - Unknown - - - - - DNA ? - - IMD31C;CANDF7 - PubMed: Zerbe 2016 family, 1 affected M ? United States Hispanic - - - - 1 Esther van de Vosse
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) Unknown - pathogenic g.191859910C>T g.190995184C>T - - STAT1_000013 gain-of-function (GOF) variant PubMed: Wildbaum 2013 - - Unknown - - - - - DNA SEQ - - IMD31C;CANDF7 - PubMed: Wildbaum 2013 family, 1 affected F ? Israel - - - - - 1 Esther van de Vosse
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) Unknown - pathogenic g.191859910C>T g.190995184C>T DNA change not specified - STAT1_000013 gain-of-function (GOF) variant PubMed: Mossner 2016 - - Unknown - - - - - DNA SEQ - - IMD31C;CANDF7 - PubMed: Mossner 2016 family, 1 affected M ? (Germany) Tunisian-German - - - - 1 Esther van de Vosse
+/+? 10 c.821G>A r.(?) p.(Arg274Gln) Unknown - pathogenic g.191859910C>T g.190995184C>T - - STAT1_000013 gain-of-function (GOF) variant PubMed: Depner 2016, OMIM:var0010 - - Germline - - - - - DNA SEQ - - IMD31C;CANDF7 - PubMed: Depner 2016 family, 4 affecteds - ? Germany - - - - - 4 Esther van de Vosse
+/. - c.821G>A r.(?) p.(Arg274Gln) Unknown - pathogenic g.191859910C>T g.190995184C>T STAT1(NM_007315.3):c.821G>A (p.R274Q) - STAT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.821G>A r.(?) p.(Arg274Gln) Unknown - pathogenic g.191859910C>T g.190995184C>T STAT1(NM_007315.3):c.821G>A (p.R274Q) - STAT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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