Full data view for gene RNU4ATAC

Information The variants shown are described using the NR_023343.1 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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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.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474760-Fam1 PubMed: He 2011 7-generation family, 3 affected (6F), unaffected heterozygous carrier parents/relatives (linked to Fam2) F yes United States Amish, Ohio - - - - 3 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474760-Fam2 PubMed: He 2011 7-generation family, 3 affected (6F), unaffected heterozygous carrier parents/relatives (linked to Fam1) F yes United States Amish, Ohio - - - - 3 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474760-Fam3 PubMed: He 2011 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M yes United States Amish, Ohio - - - - 2 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474760-Fam4 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Amish, Ohio - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474760-Fam5 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Amish, Ohio - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474760-Fam6 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United States Amish, Ohio - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474760-Fam7 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United States Amish, Ohio - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: He 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474760-FamPat8 PubMed: He 2011 unaffected heterozygous carrier parents - - Australia - - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474761-Fam1 PubMed: Edery 2011 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Algeria - - - - - 2 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474761-Fam2 PubMed: Edery 2011 3-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474761-Fam3 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Morocco - - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474761-Fam4 PubMed: Edery 2011 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Morocco - - - - - 2 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474761-Fam5 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - India - - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Parent #1 - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474761-Fam6 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States white - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Parent #1 - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474761-Fam7 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Parent #1 - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Edery 2011 - - Germline - - - - - DNA SEQ - - MOPD 21474761-Fam8 PubMed: Edery 2011 2-generation family, 1 affected fetus, unaffected heterozygous carrier parents F - Norway - - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Paternal (confirmed) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Merico 2015 - - Germline yes - - - - DNA SEQ - - RFMN 26522830-FamK3 PubMed: Merico 2015 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Lebanon - - - - - 2 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat1 PubMed: Nagy 2012 - F - United States Amish 1y6m - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat2 PubMed: Nagy 2012 - F - United States Amish 3m15d - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat3 PubMed: Nagy 2012 - F - United States Amish 2m23d - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat4 PubMed: Nagy 2012 - F - United States Amish 10m - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat5 PubMed: Nagy 2012 - M - United States Amish 9m15d - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat6 PubMed: Nagy 2012 - F - United States Amish - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat7 PubMed: Nagy 2012 - - - United States Amish - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat8 PubMed: Nagy 2012 - - - United States Amish - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat9 PubMed: Nagy 2012 - M - United States Amish 10m - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat10 PubMed: Nagy 2012 - F - United States Amish 10m - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat11 PubMed: Nagy 2012 - F - United States Amish 4m15d - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat12 PubMed: Nagy 2012 - F - United States Amish 8m15d - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat13 PubMed: Nagy 2012 - F - United States Amish >1y - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat14 PubMed: Nagy 2012 - F - United States Amish 8m15d - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Nagy 2012 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat15 PubMed: Nagy 2012, Haan 1989 - M - Malta - 1m - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Abdel-Salam 2013 - - Germline - - - - - DNA SEQ - - MOPD 23794361-Fam2Pat3 PubMed: Abdel-Salam 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Abdel-Salam 2013 - - Germline yes - - - - DNA SEQ - - MOPD 23794361-Fam3Pat4/5 PubMed: Abdel-Salam 2013 2-generation family, affected sisters, unaffected heterozygous carrier parents F yes Egypt - - - - - 2 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Parent #1 - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Putoux 2016 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat1 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - India - - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Putoux 2016 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat2 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Malta - - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Putoux 2016 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat3 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Turkey - - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Putoux 2016 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Pat4 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Rwanda - - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Putoux 2016 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Fet1 PubMed: Putoux 2016 2-generation family, affected fetus, unaffected heterozygous carrier parents - - France - - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Parent #1 - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Putoux 2016 - - Germline - - - - - DNA SEQ - - MOPD 21815888-Fet2 PubMed: Putoux 2016 2-generation family, affected fetus, unaffected heterozygous carrier parents - - Netherlands - - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Ferrell 2016 - - Germline - - - - - DNA SEQ - - MOPD 27312855-FamPat PubMed: Ferrell 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United States - - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Parent #1 - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Farach 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - LWS 29265708-Pat1 PubMed: Farach 2018 adopted child F - - - - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(51g>a) - Parent #1 - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Wang 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES, RNU4ATAC microcephaly 29370840-FamFet1/2 PubMed: Wang 2018 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents - no China north - - - - 1 Johan den Dunnen
+/. - n.51G>A r.(?) - Unknown - pathogenic g.122288506G>A g.121530930G>A RNU4ATAC(NR_023343.1):n.51G>A - RNU4ATAC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.51G>A r.(?) - Unknown - pathogenic g.122288506G>A - RNU4ATAC(NR_023343.1):n.51G>A - RNU4ATAC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - n.51G>A r.(51G>A) - Unknown - likely pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - JBTS - - - - - - - - - - - 1 Fulvio D'Abrusco
+?/. - n.51G>A r.(51G>A) - Unknown - likely pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - JBTS - - - - - - - - - - - 1 Fulvio D'Abrusco
+/. - n.51G>A r.(?) - Both (homozygous) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Johnson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - - diabetes Fam1PatII1 PubMed: Johnson 2026 2-generation family, 1 affected, unaffected parents F - - Middle-East 6.8y - - - 1 Johan den Dunnen
+/. - n.51G>A r.(?) - Paternal (confirmed) - pathogenic (recessive) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Johnson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - - diabetes Fam4PatII1 PubMed: Johnson 2026 2-generation family, 1 affected, unaffected heterozygous carrier father F - - Asia-E 1.4y - - - 1 Johan den Dunnen
+/. - n.51G>A r.(?) - Maternal (confirmed) - pathogenic (dominant) g.122288506G>A g.121530930G>A - - RNU4ATAC_000005 - PubMed: Johnson 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - - diabetes Fam6PatII1 PubMed: Johnson 2026 2-generation family, 1 affected, unaffected heterozygous carrier mother F - - African - - - - 1 Johan den Dunnen
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