All transcript variants in gene PIGU

Information The variants shown are described using the NM_080476.4 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/. - c.209T>A pathogenic (recessive) r.(?) p.(.Ile70Lys) g.33233125A>T g.34645321A>T - - PIGU_000003 - PubMed: Knaus 2019 - - Germline yes - - 0 - Johan den Dunnen
-?/. - c.319-4C>T likely benign r.spl? p.? g.33225793G>A - PIGU(NM_080476.4):c.319-4C>T - PIGU_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.1149C>A pathogenic (recessive) r.(?) p.(Asn383Lys) g.33162953G>T g.34575149G>T - - PIGU_000002 - PubMed: Knaus 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.1149C>A pathogenic (recessive) r.(?) p.(Asn383Lys) g.33162953G>T g.34575149G>T - - PIGU_000002 - PubMed: Knaus 2019 - - Germline - - - 0 - Johan den Dunnen
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