Full data view for gene NOTCH2NLC

Information The variants shown are described using the NM_001364012.1 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     
+/. - c.(-164_-126)insN[(246_342)] r.? p.? Parent #1 - pathogenic g.? g.(149390803_149390841)ins(246_342) - - NOTCH2NLC_000001 - PubMed: Tian 2019, Journal: Tian 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-ON - - PARK Family 5 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, 3 affected brothers M no China - - - - - 3 Johan den Dunnen
+/. - c.(-164_-126)insN[(294_666)] r.? p.? Parent #1 - pathogenic g.? g.(149390803_149390841)ins(294_666) - - NOTCH2NLC_000001 - PubMed: Tian 2019, Journal: Tian 2019 - - Germline yes - - - - DNA SEQ-ON - - NIID Family 1 PubMed: Tian 2019, Journal: Tian 2019 5-generation family, 12 affected (1F, 11M), unaffected non-carrier parents F;M no China - - - - - 12 Johan den Dunnen
+/. - c.(-164_-126)insN[(300_?)] r.? p.? Maternal (confirmed) - pathogenic g.? g.(149390803_149390841)ins(300_?) - - NOTCH2NLC_000001 - PubMed: Tian 2019, Journal: Tian 2019 - - Germline - - - - - DNA SEQ-ON - - NIID Family 3 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, affected mother/daughter/son (2F, M) F;M no China - - - - - 3 Johan den Dunnen
+/. - c.(-164_-126)insN[(300_?)] r.? p.? Paternal (confirmed) - pathogenic g.? g.(149390803_149390841)ins(300_?) - - NOTCH2NLC_000001 - PubMed: Tian 2019, Journal: Tian 2019 - - Germline - - - - - DNA SEQ-ON - - PARK Family 6 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, affected father/2 brothers M no China - - - - - 3 Johan den Dunnen
+/. - c.(-164_-126)insN[(300_?)] r.? p.? Paternal (confirmed) - pathogenic g.? g.(149390803_149390841)ins(300_?) - - NOTCH2NLC_000001 - PubMed: Tian 2019, Journal: Tian 2019 - - Germline - - - - - DNA SEQ-ON - - PARK Family 7 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, affected father/daughter/son (F, 2M) F;M no China - - - - - 3 Johan den Dunnen
+/. - c.(-164_-126)insN[(300_?)] r.? p.? Paternal (confirmed) - pathogenic g.? g.(149390803_149390841)ins(300_?) - - NOTCH2NLC_000001 - PubMed: Tian 2019, Journal: Tian 2019 - - Germline - - - - - DNA SEQ-ON - - ? Family 8 PubMed: Tian 2019, Journal: Tian 2019 3-generation family, 7 affected (4F, 3M) F;M no China - - - - - 7 Johan den Dunnen
+/. - c.(-164_-126)insN[(321_408)] r.? p.? Parent #1 - pathogenic g.? g.(149390803_149390841)ins(321_408) - - NOTCH2NLC_000001 - PubMed: Tian 2019, Journal: Tian 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-ON - - NIID Family 4 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, 2 affected sisters F no China - - - - - 2 Johan den Dunnen
+/. - c.(-164_-126)insN[(342_447)] r.? p.? Parent #1 - pathogenic g.? g.(149390803_149390841)ins(342_447) - - NOTCH2NLC_000001 - PubMed: Tian 2019, Journal: Tian 2019 - - Germline yes - - - - DNA SEQ-ON - - ? Family 9 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, affected mother/daughter/2 sons (2F, 2M) F;M no China - - - - - 4 Johan den Dunnen
+/. - c.(-164_-126)insN[(561_633)] r.? p.? Parent #1 - pathogenic g.? g.(149390803_149390841)ins(561_633) - - NOTCH2NLC_000001 - PubMed: Tian 2019, Journal: Tian 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-ON - - NIID Family 2 PubMed: Tian 2019, Journal: Tian 2019 2-generation family, 3 affected sibs (2F, M) F;M no China - - - - - 3 Johan den Dunnen
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