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.
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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.500A>G r.(?) p.(Tyr167Cys) - benign g.47545670A>G g.47511759A>G PHKB(NM_001031835.2):c.479A>G (p.Y160C) - PHKB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.500A>G r.(?) p.(Tyr167Cys) - VUS g.47545670A>G g.47511759A>G - - PHKB_000011 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs151155518 Germline - 2/2794 individuals - 0 - Mohammed Faruq
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