Full data view for 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     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.780C>G likely benign r.(?) p.(His260Gln) Unknown g.162473570C>G - UHMK1:NM_001184763.1:c.558C>G, NM_144624.2:c.780C>G, … - UHMK1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.794A>T likely benign r.(?) p.(Lys265Ile) Unknown g.162473584A>T - UHMK1:NM_001184763.1:c.572A>T, NM_144624.2:c.794A>T, … - UHMK1_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1214C>T - r.(?) p.(Pro405Leu) Unknown g.162492294C>T g.162522504C>T - - UHMK1_000001 - PubMed: Bosch 2016, Journal: Bosch 2016 - - De novo - - - 0 - DNA SEQ-NG - - CVI, ID - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - 0 - - 1 Danielle Bosch
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