Full data view for gene JAG1

Information The variants shown are described using the NM_000214.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, incl. YAC 940D11 - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - - - DNA SEQ - - ALGS1 - PubMed: Warthen 2006 - - - - - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-103H2 inclusive - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - - - DNA SEQ - - ALGS1 - PubMed: Warthen 2006 - - - - - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-103H2 inclusive - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - - - DNA SEQ - - ALGS1 - PubMed: Warthen 2006 - - - - - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-162P21 inclusive - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - - - DNA SEQ - - ALGS1 - PubMed: Warthen 2006 - - - - - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-162P21 inclusive - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - - - DNA SEQ - - ALGS1 - PubMed: Warthen 2006 - - - - - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, region between YAC clones 854B1 and 940D11 inclusive - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - - - DNA SEQ - - ALGS1 - PubMed: Warthen 2006 - - - - - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, region between YAC clones 854B1 and 940D11 inclusive - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - - - DNA SEQ - - ALGS1 - PubMed: Warthen 2006 - - - - - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10618332)_(10654694_?)del - deletion JAG1 gene, region between YAC clones40D11 and 964H2 inclusive - JAG1_000000 - PubMed: Warthen 2006 - - Germline - - - - - DNA SEQ - - ALGS1 - PubMed: Warthen 2006 - - - - - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic g.(?_10560458)_(10656087_?)del - 0.095 Mb deletion (10508458-10604087 NCBI35) - JAG1_000000 - PubMed: Kamath 2009 - - Unknown - - - - - DNA SEQ, SEQ-NG-I - - ALGS1 Pat1 PubMed: Kamath 2009 - - - United States - - - - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_10618332)_(10654694_?)del g.(?_10637684)_(10674046_?)del 1.3MB del - JAG1_000000 - PubMed: Yuan 2001 - - De novo - - - - - DNA SEQ - - ALGS1 ? PubMed: Yuan 2001 - - - Japan - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_10618332)_(10654694_?)del g.(?_10637684)_(10674046_?)del entire gene deletion - JAG1_000000 - PubMed: Li 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - ALGS1 ? PubMed: Li 2015 - M - China - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_10618332)_(10654694_?)del g.(?_10637684)_(10674046_?)del entire gene deletion - JAG1_000000 - PubMed: Li 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - ALGS1 ? PubMed: Li 2015 - F - China - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_10618332)_(10654694_?)del g.(?_10637684)_(10674046_?)del entire gene deletion - JAG1_000000 - PubMed: Li 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - ALGS1 ? PubMed: Li 2015 - M - China - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown ACMG pathogenic (dominant) g.(?_10601004)_(13194264_?)del - gross deletion 10601004-13194264 - JAG1_000000 - PubMed: Ohashi 2017 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ALGS1 Pat21 PubMed: Ohashi 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown ACMG pathogenic (dominant) g.(?_9085395)_(11982624_?)del - gross deletion 9085395-11982624 - JAG1_000000 - PubMed: Ohashi 2017 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ALGS1 Pat22 PubMed: Ohashi 2017 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown ACMG pathogenic (dominant) g.(?_8821878)_(17500428_?)del - gross deletion 8821878-17500428 - JAG1_000000 - PubMed: Ohashi 2017 - - De novo - - - - - DNA arrayCGH - - ALGS1 Pat23 PubMed: Ohashi 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Maternal (confirmed) - pathogenic (dominant) g.(?_10618332)_(10654694_?)del g.(?_10637684)_(10674046_?)del - - JAG1_000000 detected using FISH (cosmid 3e9), mosaic in mother PubMed: Giannakudis 2001 - - Germline - - - - - DNA SEQ - - ALGS1 Fam4 PubMed: Giannakudis 2001 mother (mosaic) and affected son M - - - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_10618332)_(10654694_?)del g.(?_10637684)_(10674046_?)del gene deletion - JAG1_000000 - PubMed: Rand 1995 - - Unknown - - - - - DNA SEQ, MLPA - - ALGS1 - PubMed: Rand 1995 - - - - - - - - - 1 Melissa Gilbert
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.10618332_10654694{0} g.10637684_10674046{0} - - JAG1_000000 600 kb deletion incl. JAG1 PubMed: Oda 1997 - - Germline - - - - - DNA FISH - - ALGS1 FamA PubMed: Oda 1997 - - - United States - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_10618332)_(10654694_?)del g.(?_10637684)_(10674046_?)del - - JAG1_000000 1.3 Mb deletion PubMed: Yuan 1998 - - Germline - - - - - DNA PCR, Southern - - ALGS1 FamU3 PubMed: Yuan 1998 - - - Japan - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Paternal (confirmed) - pathogenic (dominant) g.(?_9298889)_(11610454_?)del - 2.31 Mb deletion (9246889-11558454 NCBI35) - JAG1_000000 - PubMed: Kamath 2009 - - Germline - - - - - DNA arrayCGH - - ALGS1 Pat5 PubMed: Kamath 2009 - - - United States - - - - - 1 Johan den Dunnen
+/. _1_26_ c.-516_*1814{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_7370428)_(21985498_?)del - 12.96 Mb deletion (7318428-21933498 NCBI35) - JAG1_000000 - PubMed: Kamath 2009 - - De novo - - - - - DNA arrayCGH - - ALGS1 Pat21 PubMed: Kamath 2009 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.3000_3001ins(19) r.? p.? Unknown - pathogenic (dominant) g.10621808_10621809insN[19] - - - JAG1_000000 - PubMed: Colliton 2001 - - De novo - - - - - DNA SEQ - - ALGS1 - PubMed: Colliton 2001 - - - - - - - - - 1 Melissa Gilbert
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