Full data view for gene RNU4-2

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

57 entries on 1 page. Showing entries 1 - 57.
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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.64dup r.(?) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup n.64_65insG - RNU4-2_000011 - PubMed: Chen 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS NDD Pat45 PubMed: Chen 2024 - F - Australia white;England;Ireland - - - - 1 Johan den Dunnen
+/. - n.64dup r.(?) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup n.64_65insG - RNU4-2_000011 - PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - PubMed: Chen 2024 neurodevelopmental disorders cases collaborators - - - - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG2 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG3 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG4 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG5 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG6 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS HTX FamG7 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG8 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS HTX FamG9 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG10 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG11 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG12 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG13 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG14 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG15 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG16 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS HTX FamG17 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG18 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG19 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG20 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG21 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG22 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG23 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG24 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG25 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG26 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG27 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG28 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG29 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG30 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG31 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG32 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG33 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG34 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG35 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS HTX FamG36 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - WGS HTX FamG37 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - HTX FamN1 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents F - United States - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamN2 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - HTX FamP1 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamP2 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - HTX FamS1 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS2 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS3 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS4 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS5 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - HTX FamS6 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS7 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS8 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - HTX FamS9 PubMed: Greene 2024 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS10 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS11 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS12 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS13 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS14 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - n.64dup r.(64dup) - Unknown - pathogenic (dominant) g.120729643dup g.120291840dup 64_65insG - RNU4-2_000011 - PubMed: Greene 2024 - - De novo - - - - - DNA SEQ-NG - - HTX FamS15 PubMed: Greene 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
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