Unique variants in gene PLK1

Information The variants shown are described using the NM_005030.3 transcript reference sequence.

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

Reported     

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     
./. 1 - c.-2160047_*5630861del - r.0? p.0? g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.*1117C>T likely benign r.(=) p.(=) g.23702501C>T - ERN2(NM_033266.3):c.2517G>A (p.R839=) - ERN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*4961T>A likely benign r.(=) p.(=) g.23706345T>A - ERN2(NM_033266.3):c.1895A>T (p.H632L) - ERN2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*20903C>G likely benign r.(=) p.(=) g.23722287C>G - ERN2(NM_033266.3):c.146G>C (p.S49T) - ERN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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