All variants in the PHKB gene

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

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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     
?/. - c.2195A>G r.(?) p.(Asn732Ser) ACMG VUS g.47694729A>G g.47660818A>G - - PHKB_000010 ACMG grading: PP3; additional variants in MYF6, POMT1, MYH2 PubMed: Fichna 2018 - - Germline - - - 0 - Johan den Dunnen
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