Full data view for gene RNU4ATAC

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

2 entries on 1 page. Showing entries 1 - 2.
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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.116A>T r.(116a>u) - Maternal (confirmed) - pathogenic (recessive) g.122288571A>T g.121530995A>T - - RNU4ATAC_000020 - PubMed: Bogaert 2017 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MOPD 28623346-Fam2PatII1/2 PubMed: Bogaert 2017 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M no Belgium - - - - - 2 Johan den Dunnen
+/. - n.116A>T r.(116a>u) - Maternal (confirmed) - pathogenic (recessive) g.122288571A>T g.121530995A>T - - RNU4ATAC_000020 - PubMed: Hallermayr 2018 - - Germline - - - - - DNA SEQ - - MOPD 30455926-Pat1 PubMed: Hallermayr 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany - - - - - 1 Johan den Dunnen
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