Full data view for gene UBA1

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     

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.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism; variant absent from fibroblasts PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG blood WES ? Pat1 PubMed: Beck 2020 - M - United States - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism; variant absent from fibroblasts PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG blood WES ? Pat3 PubMed: Beck 2020 - M - United States - 76y 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ - - ? Pat5 PubMed: Beck 2020 - M - United States - 60y 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat8 PubMed: Beck 2020 - M - - - 73y 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat9 PubMed: Beck 2020 - M - - - 84y 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat10 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat11 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat13 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat16 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat17 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat18 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat20 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat21 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat23 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. 3 c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic (!) g.47058451T>C g.47199052T>C - - UBA1_000070 somatic mosaicism PubMed: Beck 2020 - - Somatic - - - 0 - DNA SEQ, SEQ-NG - - ? Pat24 PubMed: Beck 2020 - M - - - - 0 - see paper 1 Johan den Dunnen
+/. - c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic g.47058451T>C - UBA1(NM_003334.4):c.122T>C (p.M41T) - UBA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic g.47058451T>C - UBA1(NM_003334.4):c.122T>C (p.M41T) - UBA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.122T>C r.(?) p.(Met41Thr) Unknown - pathogenic g.47058451T>C - UBA1(NM_003334.4):c.122T>C (p.M41T) - UBA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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