Full data view for gene NOTCH4

Information The variants shown are described using the NM_004557.3 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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.33_47del r.(?) p.(Leu12_Leu16del) Unknown - VUS g.32191676_32191690del g.32223899_32223913del NOTCH4(NM_004557.3):c.33_47del (p.(Leu12_Leu16del)) - NOTCH4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.36_47del r.(?) p.(Leu13_Leu16del) Unknown - benign g.32191679_32191690del g.32223902_32223913del NOTCH4(NM_004557.3):c.33_44del (p.(Leu13_Leu16del)), NOTCH4(NM_004557.3):c.36_47delGCTGCTGCTGCT (p.L13_L16del) - NOTCH4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.36_47del r.(?) p.(Leu13_Leu16del) Unknown - VUS g.32191679_32191690del g.32223902_32223913del NOTCH4(NM_004557.3):c.33_44del (p.(Leu13_Leu16del)), NOTCH4(NM_004557.3):c.36_47delGCTGCTGCTGCT (p.L13_L16del) - NOTCH4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.42_47dup r.(?) p.(Leu15_Leu16dup) Unknown - VUS g.32191685_32191690dup g.32223908_32223913dup NOTCH4(NM_004557.3):c.42_47dupGCTGCT (p.L15_L16dup), NOTCH4(NM_004557.3):c.47_48insGCTGCT (p.?) - NOTCH4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42_47dup r.(?) p.(Leu15_Leu16dup) Unknown - benign g.32191685_32191690dup g.32223908_32223913dup NOTCH4(NM_004557.3):c.42_47dupGCTGCT (p.L15_L16dup), NOTCH4(NM_004557.3):c.47_48insGCTGCT (p.?) - NOTCH4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45_47del r.(?) p.(Leu16del) Unknown - benign g.32191688_32191690del g.32223911_32223913del NOTCH4(NM_004557.3):c.33_35del (p.(Leu16del)), NOTCH4(NM_004557.3):c.45_47delGCT (p.L16del), NOTCH4(NM_004557.4):c.45_47delGCT (p.L16del) - NOTCH4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.45_47del r.(?) p.(Leu16del) Unknown - VUS g.32191688_32191690del g.32223911_32223913del NOTCH4(NM_004557.3):c.33_35del (p.(Leu16del)), NOTCH4(NM_004557.3):c.45_47delGCT (p.L16del), NOTCH4(NM_004557.4):c.45_47delGCT (p.L16del) - NOTCH4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45_47del r.(?) p.(Leu16del) Unknown - benign g.32191688_32191690del - NOTCH4(NM_004557.3):c.33_35del (p.(Leu16del)), NOTCH4(NM_004557.3):c.45_47delGCT (p.L16del), NOTCH4(NM_004557.4):c.45_47delGCT (p.L16del) - NOTCH4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45_47dup r.(?) p.(Leu16dup) Unknown - likely benign g.32191688_32191690dup - NOTCH4(NM_004557.3):c.33_35dup (p.(Leu16dup)) - GPSM3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267G>T r.(?) p.(Gly89=) Unknown - likely benign g.32190472C>A - NOTCH4(NM_004557.3):c.267G>T (p.G89=) - GPSM3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.820G>C r.(?) p.(Glu274Gln) Unknown - VUS g.32188635C>G - - - NOTCH4_000021 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1211A>T r.(?) p.(Asp404Val) Unknown - likely benign g.32188010T>A g.32220233T>A NOTCH4(NM_004557.4):c.1211A>T (p.(Asp404Val)) - GPSM3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1748G>A r.(?) p.(Gly583Glu) Unknown - VUS g.32184835C>T g.32217058C>T NOTCH4(NM_004557.3):c.1748G>A (p.(Gly583Glu)) - NOTCH4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2224G>A r.(?) p.(Gly742Ser) Unknown - VUS g.32181561C>T g.32213784C>T NOTCH4(NM_004557.3):c.2224G>A (p.(Gly742Ser)) - NOTCH4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2302A>G r.(?) p.(Thr768Ala) Unknown - likely benign g.32181483T>C g.32213706T>C NOTCH4(NM_004557.3):c.2302A>G (p.T768A) - GPSM3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2959C>T r.(?) p.(Pro987Ser) Unknown - VUS g.32172073G>A g.32204296G>A NOTCH4(NM_004557.3):c.2959C>T (p.P987S) - NOTCH4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3286T>C r.(?) p.(Cys1096Arg) Unknown - VUS g.32170322A>G g.32202545A>G NOTCH4(NM_004557.3):c.3286T>C (p.(Cys1096Arg)) - NOTCH4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.3973G>T r.(?) p.(Val1325Leu) Both (homozygous) - likely pathogenic g.32169060C>A g.32201283C>A - - NOTCH4_000020 - PubMed: Saeed 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES obesity 29311637-Fam3 PubMed: Saeed 2018 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.4316-2A>G r.spl? p.? Unknown - likely pathogenic g.32166924T>C - NOTCH4(NM_004557.3):c.4316-2A>G (p.?) - GPSM3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4607_4609del r.(?) p.(Glu1536del) Unknown - likely benign g.32166438_32166440del - NOTCH4(NM_004557.4):c.4607_4609del (p.(Glu1536del)) - GPSM3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4754C>T r.(?) p.(Pro1585Leu) Unknown - VUS g.32166200G>A - NOTCH4(NM_004557.3):c.4754C>T (p.P1585L) - GPSM3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5578C>A r.(?) p.(Arg1860Ser) Unknown - likely benign g.32163648G>T g.32195871G>T NOTCH4(NM_004557.3):c.5578C>A (p.(Arg1860Ser)) - NOTCH4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5920C>T r.(?) p.(Pro1974Ser) Unknown - VUS g.32163306G>A - NOTCH4(NM_004557.4):c.5920C>T (p.(Pro1974Ser)) - GPSM3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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