All variants in the PHKB gene

Information The variants shown are described using the NM_000293.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 20 c.1969C>T r.(?) p.(Gln657*) - pathogenic g.47684830C>T g.47650919C>T - - PHKB_000002 - - - rs34667348 Germline - - - 0 - Shu Yau
+/. 20 c.1969C>T r.(?) p.(Gln657*) - pathogenic g.47684830C>T g.47650919C>T - - PHKB_000002 - - - rs34667348 Germline - - - 0 - Shu Yau
+/. - c.1969C>T r.(?) p.(Gln657Ter) - pathogenic g.47684830C>T g.47650919C>T PHKB(NM_001031835.2):c.1948C>T (p.Q650*), PHKB(NM_001031835.3):c.1948C>T (p.Q650*) - PHKB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1969C>T r.(?) p.(Gln657Ter) - pathogenic g.47684830C>T - PHKB(NM_001031835.2):c.1948C>T (p.Q650*), PHKB(NM_001031835.3):c.1948C>T (p.Q650*) - PHKB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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