Full data view for gene RNU4-2

Information The variants shown are described using the NR_003137.2 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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     
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat1 PubMed: Chen 2024 - M - United States white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat2 PubMed: Chen 2024 - M - United States white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Maternal (confirmed) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat3 PubMed: Chen 2024 - M - United States white;Hispanic;jew-Ashkenazi;Italy;Colombia;Poland - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat4 PubMed: Chen 2024 - M - United States Asia;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat5 PubMed: Chen 2024 - F - United States white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat6 PubMed: Chen 2024 - F - Lebanon white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat7 PubMed: Chen 2024 - M - Australia white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Maternal (confirmed) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat8 PubMed: Chen 2024 - M - United States white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat9 PubMed: Chen 2024 - M - Australia white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat10 PubMed: Chen 2024 - F - United States white - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat11 PubMed: Chen 2024 - F - United States white;Asia - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat12 PubMed: Chen 2024 - F - - white - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Maternal (confirmed) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat13 PubMed: Chen 2024 - M - Ukraine;Romania - - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat14 PubMed: Chen 2024 - M - - white;Asia;Anglo-Australia;Malaysia;China - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Maternal (confirmed) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat15 PubMed: Chen 2024 - F - Australia white;Scotland;Cypriot-Turkey - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Maternal (confirmed) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat16 PubMed: Chen 2024 - F - Australia white;Europe-N - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat17 PubMed: Chen 2024 - M - Australia white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Maternal (confirmed) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat18 PubMed: Chen 2024 - M - Belgium;Greece white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat19 PubMed: Chen 2024 - F - Syria - - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat20 PubMed: Chen 2024 - F - Australia white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Maternal (confirmed) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat21 PubMed: Chen 2024 - M - Pakistan - - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat22 PubMed: Chen 2024 - M - Germany white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat23 PubMed: Chen 2024 - F - - white - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat24 PubMed: Chen 2024 - M - Ireland;Italy;Mexico white;Hispanic - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat25 PubMed: Chen 2024 - M - United States white - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Paternal (inferred) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat26 PubMed: Chen 2024 - M - United States white - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat27 PubMed: Chen 2024 - M - United States white;Germany;Poland;Sweden;Ireland - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Maternal (confirmed) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat28 PubMed: Chen 2024 - F - France;Poland white - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Paternal (inferred) - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat29 PubMed: Chen 2024 - M - United States white - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat30 PubMed: Chen 2024 - F - India Asia-S - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat31 PubMed: Chen 2024 - M - United Kingdom (Great Britain) white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat32 PubMed: Chen 2024 - M - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat33 PubMed: Chen 2024 - M - Portugal white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat34 PubMed: Chen 2024 - M - United Kingdom (Great Britain) white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat36 PubMed: Chen 2024 - F - Philippines white;Filipino - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat37 PubMed: Chen 2024 - M - United Kingdom (Great Britain) white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat38 PubMed: Chen 2024 - M - India Asia - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat39 PubMed: Chen 2024 - M - United Kingdom (Great Britain) white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat40 PubMed: Chen 2024 - F - United Kingdom (Great Britain) white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat41 PubMed: Chen 2024 - F - United Kingdom (Great Britain) white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat42 PubMed: Chen 2024 - F - United Kingdom (Great Britain) Indian - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat43 PubMed: Chen 2024 - F - United Kingdom (Great Britain) white;Europe - - - - 1 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - PubMed: Chen 2024 neurodevelopmental disorders cases Genomics England project - - United Kingdom (Great Britain) - - - - - 33 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - PubMed: Chen 2024 neurodevelopmental disorders cases collaborators - - - - - - - - 14 Johan den Dunnen
+/. - n.64_65insT r.(?) - Unknown - pathogenic (dominant) g.120729642_120729643insA g.120291839_120291840insA - - RNU4-2_000002 - PubMed: Schot 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WGS NDD patient PubMed: Schot 2024 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - - - - - 1 Johan den Dunnen
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