All variants in the PHKB gene

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

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
?/. - c.1969C>A r.(?) p.(Gln657Lys) ACMG VUS g.47684830C>A g.47650919C>A - - PHKB_000009 ACMG grading: PP3; additional variants in MYF6, POMT1, MYH2 PubMed: Fichna 2018 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1969C>A r.(?) p.(Gln657Lys) - likely benign g.47684830C>A g.47650919C>A PHKB(NM_001031835.3):c.1948C>A (p.Q650K) - PHKB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
Legend   How to query