Full data view for gene NOTCH2NLC

Information The variants shown are described using the NM_001364012.1 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline yes - - - - DNA PCRrp, Southern - - NIID FamF6321 PubMed: Ishiura 2019 3-generation family, 4 affected (2F, M) - - Japan - - - - - 4 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline yes - - - - DNA PCRrp, Southern - - NIID FamF9193 PubMed: Ishiura 2019 2-generation family, 4 affected brothers (4M) - - Japan - - - - - 4 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline yes - - - - DNA PCRrp, Southern - - NIID FamF11393 PubMed: Ishiura 2019 2-generation family, 3 affected sibs (F, 2M) - - Japan - - - - - 3 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline yes - - - - DNA PCRrp, Southern - - NIID FamF8504 PubMed: Ishiura 2019 family - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline yes - - - - DNA PCRrp, Southern - - NIID Fam9703 PubMed: Ishiura 2019 family - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline yes - - - - DNA PCRrp, Southern - - NIID Fam10198 PubMed: Ishiura 2019 family - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline yes - - - - DNA PCRrp, Southern - - NIID Fam10522 PubMed: Ishiura 2019 family - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline yes - - - - DNA PCRrp, Southern - - NIID Fam10524 PubMed: Ishiura 2019 family - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline yes - - - - DNA PCRrp, Southern - - NIID Fam10709 PubMed: Ishiura 2019 family - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline yes - - - - DNA PCRrp, Southern - - NIID Fam10983 PubMed: Ishiura 2019 family - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline yes - - - - DNA PCRrp, Southern - - NIID Fam11312 PubMed: Ishiura 2019 family - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline yes - - - - DNA PCRrp, Southern - - NIID Fam11624 PubMed: Ishiura 2019 family - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID NIIDSpoF7756 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID NIIDSpoF8791 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID NIIDSpoF8821 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID NIIDSpoF8832 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID NIIDSpoF8982 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID NIIDSpoF9224 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID NIIDSpoF9468 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID NIIDSpoF9681 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID NIIDSpoF9714 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID NIIDSpoF10587 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID NIIDSpoF10588 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID NIIDSpoF11596 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID PatF8775 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID PatF8776 PubMed: Ishiura 2019 - - - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID MalPat1 PubMed: Ishiura 2019 - - - Malaysia China - - - - 1 Johan den Dunnen
+/. 1 c.(-164_-126)insN[(270_540)] r.(?) p.(=) Unknown - pathogenic (dominant) g.? g.(149390803_149390841)ins(270_540) - - NOTCH2NLC_000110 - PubMed: Ishiura 2019 - - Germline/De novo (untested) - - - - - DNA PCRrp, Southern - - NIID MalPat2 PubMed: Ishiura 2019 - - - Malaysia China - - - - 1 Johan den Dunnen
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