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.555G>T r.(?) p.(Met185Ile) - benign g.47549473G>T g.47515562G>T PHKB(NM_001031835.3):c.534G>T (p.M178I) - PHKB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.555G>T r.(?) p.(Met185Ile) - likely benign g.47549473G>T g.47515562G>T - - PHKB_000007 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56257827 Germline - 7/2795 individuals - 0 - Mohammed Faruq
Legend   How to query