Full data view for gene STAG1

Information The variants shown are described using the NM_005862.2 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     
+/. _1_34_ c.-292_*1097{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_132105162)_(137103889_?)del - del chr3:132105162-137103889 - STAG1_000056 4,999 Mb deletion STAG1 and 26 other protein-coding genes PubMed: Yuan 2019 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER250264 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_34_ c.-292_*1097{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_134445455)_(137487959_?)del - del chr3:134445455-137487959 - STAG1_000056 3,043 Mb deletion STAG1 and 8 other protein-coding genes PubMed: Yuan 2019 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER265582 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_34_ c.-292_*1097{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_135470061)_(137567648_?)del - del chr3:135470061-137567648 - STAG1_000056 2,098 Mb deletion STAG1 and 7 other protein-coding genes PubMed: Yuan 2019 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? DECIPHER267690 PubMed: Yuan 2019 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_34_ c.-292_*1097{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_133143318)_(137314105_?)del - del chr3:133143318-137314105 - STAG1_000056 4,171 Mb deletion STAG1 and 20 other protein-coding genes PubMed: Yuan 2019 - - De novo - - - - - DNA arrayCGH - - ? DECIPHER308397 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_34_ c.-292_*1097{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_135142319)_(136679992_?)del - del chr3:135142319-136679992 - STAG1_000056 1,538 Mb deletion STAG1 and 6 other protein-coding genes PubMed: Yuan 2019 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? Pat5 PubMed: Yuan 2019 - F - - - - - - - 1 Johan den Dunnen
+/. _1_34_ c.-292_*1097{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_135979743)_(136510812_?)del - del chr3: 135979743–136510812 - STAG1_000056 3q deletion STAG1, PCCB PubMed: Lehalle 2017 - - De novo - - - - - DNA arrayCGH - - ? Pat1 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. _1_34_ c.-292_*1097{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_136035522)_(136412948_?)del - del chr3: 136035522–136412948 - STAG1_000056 3q deletion STAG1, PCCB PubMed: Lehalle 2017 - - De novo - - - - - DNA arrayCGH - - ? Pat2 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_34_ c.-292_*1097{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_135983184)_(136383429_?)del - del chr3: 135983184–136383429 - STAG1_000056 3q deletion STAG1, PCCB PubMed: Lehalle 2017 - - De novo - - - - - DNA SEQ-NG - WES ? Pat3 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. _1_34_ c.-292_*1097{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_135969755)_(136305476_?)del - del chr3: 135969755–136305476 - STAG1_000056 3q deletion STAG1, PCCB PubMed: Lehalle 2017 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? Pat6 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
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