Full data view for gene STAG3

Information The variants shown are described using the NM_012447.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.84T>C r.(?) p.(Phe28=) Unknown - likely benign g.99778263T>C g.100180640T>C STAG3(NM_001282717.1):c.84T>C (p.F28=) - STAG3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116+5G>A r.spl? p.? Unknown - likely benign g.99778300G>A - STAG3(NM_012447.4):c.116+5G>A - GPC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.331A>G r.(?) p.(Met111Val) Unknown - likely benign g.99780457A>G g.100182834A>G STAG3(NM_001282717.1):c.331A>G (p.M111V) - STAG3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.466T>C r.(?) p.(Ser156Pro) Unknown - likely benign g.99786108T>C - STAG3(NM_001282717.1):c.466T>C (p.S156P) - STAG3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487C>T r.(?) p.(His163Tyr) Unknown - VUS g.99786129C>T - STAG3(NM_012447.4):c.487C>T (p.H163Y) - STAG3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.562del r.(?) p.(Gln188Argfs*8) Both (homozygous) - pathogenic g.99786486del g.100188863del 968delC - STAG3_000002 - PubMed: Caburet 2014, Journal: Caburet 2014, OMIM:var0001 - rs587777267 Germline yes - - - - DNA SEQ, SEQ-NG - - POF8 - PubMed: Caburet 2014, Journal: Caburet 2014, PubMed: Caburet 2012 5-generation family, 5 affecteds (5F), unaffected heterozygous carriers - yes Israel Palestinian - - - - 5 Johan den Dunnen
?/. - c.928G>A - - Unknown - VUS g.99792992G>A - NM_012447:c.G928A (V310I) - STAG3_000012 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0055 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
?/. - c.983T>C r.(?) p.(Ile328Thr) Unknown - VUS g.99794820T>C - STAG3(NM_012447.4):c.983T>C (p.I328T) - PVRIG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1164+6dup r.(=) p.(=) Unknown - likely benign g.99795505dup g.100197882dup STAG3(NM_001282717.1):c.1164+6dupA - PVRIG_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/-? - c.1293A>C r.(?) p.(Pro431=) Both (homozygous) - likely benign g.99796146A>C g.100198523A>C - - STAG3_000003 - - - - Germline - - - - - DNA SEQ, SEQ-NG - - POF8 26059840-FamPatII1/2 PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016 two affected sisters, unaffected parents F yes (Lebanon) Lebanese - - - - 2 Polona Le Quesne Stabej
?/. - c.1468C>T r.(?) p.(Leu490Phe) Unknown - VUS g.99796885C>T - STAG3(NM_012447.4):c.1468C>T (p.L490F) - PVRIG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1523G>A r.(?) p.(Arg508Gln) Unknown - likely benign g.99796940G>A g.100199317G>A STAG3(NM_001282717.1):c.1523G>A (p.R508Q) - STAG3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1573+5G>A r.1468_1573del p.Leu490Thrfs*10 Unknown ACMG likely pathogenic g.99796995G>A g.100199372G>A - - STAG3_000011 ACMG PM2, PP4, PS3 PubMed: He 2022 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood WES ? Fam9 PubMed: He 2022 - - - China - - - - - 1 Johan den Dunnen
-?/-? - c.1573+41C>G r.(=) p.(=) Both (homozygous) - likely benign g.99797031C>G g.100199408C>G - - STAG3_000004 - - - rs2272345 Germline - - - - - DNA SEQ, SEQ-NG - - POF8 26059840-FamPatII1/2 PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016 two affected sisters, unaffected parents F yes (Lebanon) Lebanese - - - - 2 Polona Le Quesne Stabej
+?/. - c.1599_1600del r.(1599_1600del) p.(Leu534Aspfs*30) Both (homozygous) ACMG likely pathogenic g.99797189_99797190del g.100199566_100199567del 99797185GCA>G - STAG3_000013 - - - - Germline yes - - - - DNA SEQ, SEQ-NG Whole blood WGS (whole genome sequencing) INF 2334_Case4 - - M yes Egypt - - - - - 1 Rima Slim
+?/. - c.1599_1600del r.(1599_1600del) p.(Leu534Aspfs*30) Both (homozygous) ACMG likely pathogenic g.99797189_99797190del g.100199566_100199567del 99797185GCA>G - STAG3_000013 - - - - Germline yes - - - - DNA SEQ, SEQ-NG Whole blood WES (whole exome sequencing) INF 2335_Case4 - - M yes Egypt - - - - - 1 Rima Slim
+?/. - c.1599_1600del r.(1599_1600del) p.(Leu534Aspfs*30) Both (homozygous) ACMG likely pathogenic g.99797189_99797190del g.100199566_100199567del 99797185GCA>G - STAG3_000013 - - - - Germline yes - - - - DNA SEQ, SEQ-NG Whole blood WES (whole exome sequencing) INFF 2336_Case4 - - F yes Egypt - - - - - 1 Rima Slim
-?/. - c.1650G>A r.(?) p.(Pro550=) Unknown - likely benign g.99797240G>A g.100199617G>A STAG3(NM_001282717.1):c.1650G>A (p.P550=) - PVRIG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 19 c.1947_1948dup r.(?) p.(Tyr650Serfs*22) Both (homozygous) - likely pathogenic g.99798478_99798479dup g.100200855_100200856dup 1947_48dupCT - STAG3_000001 variant segregates with POI phenotype, unaffected sister homozygous for reference allele PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - - POF8 26059840-FamPatII1/2 PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016 two affected sisters, unaffected parents F yes (Lebanon) Lebanese - - - - 2 Polona Le Quesne Stabej
?/. - c.1999C>T r.(?) p.(Arg667Cys) Unknown - VUS g.99798530C>T - STAG3(NM_012447.4):c.1999C>T (p.R667C) - PVRIG_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2304G>A r.(?) p.(Lys768=) Unknown - likely benign g.99799574G>A - STAG3(NM_001282717.1):c.2304G>A (p.K768=) - PVRIG_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2445T>A r.(=) p.(=) Unknown - - g.99799845T>A g.100202222T>A - - STAG3_000005 - - - rs3982311 Germline - - - - - DNA SEQ, SEQ-NG - - POF8 26059840-FamPatII1/2 PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016 two affected sisters, unaffected parents F yes (Lebanon) Lebanese - - - - 2 Polona Le Quesne Stabej
?/. - c.2615G>A r.(?) p.(Arg872His) Unknown - VUS g.99800128G>A - STAG3(NM_001282717.1):c.2615G>A (p.R872H), STAG3(NM_012447.4):c.2615G>A (p.R872H) - PVRIG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2615G>A r.(?) p.(Arg872His) Unknown - VUS g.99800128G>A - STAG3(NM_001282717.1):c.2615G>A (p.R872H), STAG3(NM_012447.4):c.2615G>A (p.R872H) - PVRIG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2770T>C r.(?) p.(Cys924Arg) Unknown - VUS g.99801713T>C - STAG3(NM_001282717.1):c.2770T>C (p.C924R) - PVRIG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2884C>T r.(?) p.(Arg962Trp) Unknown - likely benign g.99802331C>T - STAG3(NM_012447.2):c.2884C>T (p.(Arg962Trp)) - PVRIG_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3185C>T r.(?) p.(Thr1062Ile) Unknown - VUS g.99802954C>T g.100205331C>T STAG3(NM_001282717.1):c.3185C>T (p.T1062I) - STAG3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3294G>T r.(?) p.(Gln1098His) Unknown - VUS g.99808689G>T - STAG3(NM_001282717.2):c.3294G>T (p.(Gln1098His)) - PVRIG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3306C>G r.(?) p.(Ile1102Met) Unknown - likely benign g.99808701C>G g.100211078C>G STAG3(NM_001282717.1):c.3306C>G (p.I1102M), STAG3(NM_012447.2):c.3306C>G (p.(Ile1102Met)) - PVRIG_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3306C>G r.(?) p.(Ile1102Met) Unknown - likely benign g.99808701C>G g.100211078C>G STAG3(NM_001282717.1):c.3306C>G (p.I1102M), STAG3(NM_012447.2):c.3306C>G (p.(Ile1102Met)) - PVRIG_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3309G>C r.(?) p.(Pro1103=) Unknown - likely benign g.99808704G>C g.100211081G>C STAG3(NM_001282717.1):c.3309G>C (p.P1103=) - PVRIG_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3313A>C r.(?) p.(Thr1105Pro) Unknown - VUS g.99808708A>C g.100211085A>C STAG3(NM_001282717.1):c.3313A>C (p.T1105P) - PVRIG_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3315G>C r.(?) p.(Thr1105=) Unknown - likely benign g.99808710G>C - STAG3(NM_001282717.1):c.3315G>C (p.T1105=) - PVRIG_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3319A>C r.(?) p.(Thr1107Pro) Unknown - VUS g.99808714A>C g.100211091A>C STAG3(NM_001282717.1):c.3319A>C (p.T1107P) - PVRIG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3597G>A r.(?) p.(Met1199Ile) Unknown - VUS g.99809499G>A - STAG3(NM_001282717.1):c.3600G>A (p.M1200I) - PVRIG_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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