All variants in the UBA1 gene

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

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism; variant absent from fibroblasts PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism; variant absent from fibroblasts PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. - c.122T>C r.(?) p.(Met41Thr) - pathogenic g.47058451T>C - UBA1(NM_003334.4):c.122T>C (p.M41T) - UBA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.122T>C r.(?) p.(Met41Thr) - pathogenic g.47058451T>C - UBA1(NM_003334.4):c.122T>C (p.M41T) - UBA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.122T>C r.(?) p.(Met41Thr) - pathogenic g.47058451T>C - UBA1(NM_003334.4):c.122T>C (p.M41T) - UBA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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