Full data view for gene UBA5

Information The variants shown are described using the NM_024818.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 11 c.1111G>A r.1111g>a p.Ala371Thr Paternal (confirmed) - pathogenic (!) g.132394747G>A g.132675903G>A - - UBA5_000014 variant pathogenic (recessive) but homozygous benign PubMed: Colin 2016 - rs114925667 Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES EE 27829678-FamA PubMed: Colin 2016 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M no Finland - - - - - 2 Johan den Dunnen
+/. 11 c.1111G>A r.(?) p.(Ala371Thr) Paternal (confirmed) - pathogenic (!) g.132394747G>A g.132675903G>A - - UBA5_000014 variant pathogenic (recessive) but homozygous benign PubMed: Colin 2016 - rs114925667 Germline yes - - - - DNA SEQ, SEQ-NG - WES EE 27829679-FamB PubMed: Colin 2016 2-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents/relatives F;M no Finland - - - - - 3 Johan den Dunnen
+/. 11 c.1111G>A r.(?) p.(Ala371Thr) Maternal (confirmed) - pathogenic (!) g.132394747G>A g.132675903G>A - - UBA5_000014 variant pathogenic (recessive) but homozygous benign PubMed: Colin 2016 - rs114925667 Germline yes - - - - DNA SEQ, SEQ-NG - WES EE 27829680-FamC PubMed: Colin 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 11 c.1111G>A r.(?) p.(Ala371Thr) Paternal (confirmed) - pathogenic (!) g.132394747G>A g.132675903G>A - - UBA5_000014 variant pathogenic (recessive) but homozygous benign PubMed: Colin 2016 - rs114925667 Germline yes - - - - DNA SEQ, SEQ-NG - WES EE 27829681-FamD PubMed: Colin 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Northern Ireland;Romania - - - - - 1 Johan den Dunnen
+/. 11 c.1111G>A r.(?) p.(Ala371Thr) Paternal (confirmed) - pathogenic (!) g.132394747G>A g.132675903G>A - - UBA5_000014 variant pathogenic (recessive) but homozygous benign PubMed: Colin 2016 - rs114925667 Germline yes - - - - DNA SEQ, SEQ-NG - - EE 27829682-FamE PubMed: Colin 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Finland - - - - - 1 Johan den Dunnen
+/. 11 c.1111G>A r.(?) p.(Ala371Thr) Maternal (confirmed) - pathogenic (!) g.132394747G>A g.132675903G>A - - UBA5_000014 variant pathogenic (recessive) but homozygous benign PubMed: Muona 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES EE 27545674-FamA PubMed: Muona 2016 2-generation family, affected brothers, unaffected heterozygous carrier parents M no France - - - - - 2 Johan den Dunnen
+/. 11 c.1111G>A r.(?) p.(Ala371Thr) Maternal (confirmed) - pathogenic (!) g.132394747G>A g.132675903G>A - - UBA5_000014 variant pathogenic (recessive) but homozygous benign PubMed: Muona 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES EE 27545675-FamB PubMed: Muona 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. 11 c.1111G>A r.(?) p.(Ala371Thr) Paternal (confirmed) - pathogenic (!) g.132394747G>A g.132675903G>A - - UBA5_000014 variant pathogenic (recessive) but homozygous benign PubMed: Arnadottir 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES EE 28965491-Fam PubMed: Arnadottir 2017 2-generation family, affected sisters, unaffected heterozygous carrier parents/relatives F no Iceland - - - - - 2 Johan den Dunnen
+/. 11 c.1111G>A r.(?) p.(Ala371Thr) Both (homozygous) - pathogenic (!) g.132394747G>A g.132675903G>A - - UBA5_000014 NOTE: variant benign in homozygous state PubMed: Arnadottir 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 28965491-IndA PubMed: Arnadottir 2017 - F - Iceland - - - - - 1 Johan den Dunnen
+/. 11 c.1111G>A r.(?) p.(Ala371Thr) Both (homozygous) - pathogenic (!) g.132394747G>A g.132675903G>A - - UBA5_000014 NOTE: variant benign in homozygous state PubMed: Arnadottir 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 28965491-IndB PubMed: Arnadottir 2017 - M - Iceland - - - - - 1 Johan den Dunnen
+/. 11 c.1111G>A r.(?) p.(Ala371Thr) Both (homozygous) - pathogenic (!) g.132394747G>A g.132675903G>A - - UBA5_000014 NOTE: variant benign in homozygous state PubMed: Arnadottir 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 28965491-IndC PubMed: Arnadottir 2017 - F - Iceland - - - - - 1 Johan den Dunnen
+/. 11 c.1111G>A r.(?) p.(Ala371Thr) Both (homozygous) - pathogenic (!) g.132394747G>A g.132675903G>A - - UBA5_000014 NOTE: variant benign in homozygous state PubMed: Arnadottir 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control 27829678-IndA PubMed: Colin 2016 - - - Finland - - - - - 1 Johan den Dunnen
+/. 11 c.1111G>A r.(?) p.(Ala371Thr) Maternal (confirmed) ACMG pathogenic g.132394747G>A g.132675903G>A - - UBA5_000014 - PubMed: Tumienė 2018 - - Germline - - - - - DNA SEQ-NG - WES ? 29286531-Pat38 PubMed: Tumienė 2018 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F;M no (Slovenia) - - - - - 1 Johan den Dunnen
+/. - c.1111G>A r.(?) p.(Ala371Thr) Unknown - pathogenic g.132394747G>A g.132675903G>A UBA5(NM_024818.3):c.1111G>A (p.(Ala371Thr)), UBA5(NM_024818.4):c.1111G>A (p.A371T), UBA5(NM_024818.5):c.1111G>A (p.A371T) - UBA5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1111G>A r.(?) p.(Ala371Thr) Unknown - pathogenic g.132394747G>A - UBA5(NM_024818.3):c.1111G>A (p.(Ala371Thr)), UBA5(NM_024818.4):c.1111G>A (p.A371T), UBA5(NM_024818.5):c.1111G>A (p.A371T) - UBA5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1111G>A r.(?) p.(Ala371Thr) Maternal (confirmed) - likely pathogenic g.132394747G>A - - - UBA5_000014 - - - - Germline - - - - - DNA SEQ-NG - WES EIEE44, SCAR24 159P - - F no Spain - - - - - 1 Alejandro Brea-Fernández
+/. - c.1111G>A r.(?) p.(Ala371Thr) Unknown - pathogenic g.132394747G>A - UBA5(NM_024818.3):c.1111G>A (p.(Ala371Thr)), UBA5(NM_024818.4):c.1111G>A (p.A371T), UBA5(NM_024818.5):c.1111G>A (p.A371T) - UBA5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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