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.573_577del r.(?) p.(Gln191Hisfs*5) - pathogenic (recessive) g.47549491_47549495del g.47515580_47515584del 573_577delGATTA - PHKB_000024 - PubMed: Davit-Spraul 2011 - - Germline - - - 0 - LOVD
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