Unique variants in gene UHMK1

Information The variants shown are described using the NM_175866.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.780C>G VUS r.(?) p.(His260Gln) g.162473570C>G - UHMK1(NM_001184763.1):c.558C>G (p.(His186Gln), p.(His260Gln)) - UHMK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.794A>T VUS r.(?) p.(Lys265Ile) g.162473584A>T - UHMK1(NM_001184763.1):c.572A>T (p.(Lys191Ile), p.(Lys265Ile)) - UHMK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 8 c.1214C>T - r.(?) p.(Pro405Leu) g.162492294C>T g.162522504C>T - - UHMK1_000001 - PubMed: Bosch 2016, Journal: Bosch 2016 - - De novo - - - - - Danielle Bosch
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