Full data view for gene UBA1

Information The variants shown are described using the NM_003334.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 3 c.121A>C r.(?) p.(Met41Leu) Unknown - pathogenic (!) g.47058450A>C g.47199051A>C - - UBA1_000069 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat7 PubMed: Beck 2020 - M - - - 70y 0 - see paper 1 Johan den Dunnen
+/. 3 c.121A>C r.(?) p.(Met41Leu) Unknown - pathogenic (!) g.47058450A>C g.47199051A>C - - UBA1_000069 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat14 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.121A>C r.(?) p.(Met41Leu) Unknown - pathogenic (!) g.47058450A>C g.47199051A>C - - UBA1_000069 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat15 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.121A>C r.(?) p.(Met41Leu) Unknown - pathogenic (!) g.47058450A>C g.47199051A>C - - UBA1_000069 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat19 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.121A>C r.(?) p.(Met41Leu) Unknown - pathogenic (!) g.47058450A>C g.47199051A>C - - UBA1_000069 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat22 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. - c.121A>C r.(?) p.(Met41Leu) Unknown - pathogenic g.47058450A>C - UBA1(NM_003334.4):c.121A>C (p.M41L) - UBA1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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