Full data view for gene PHKB

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.2309A>G r.(?) p.(Tyr770Cys) Unknown - likely benign g.47697618A>G g.47663707A>G PHKB(NM_001031835.3):c.2288A>G (p.Y763C) - PHKB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2309A>G r.(?) p.(Tyr770Cys) Unknown - VUS g.47697618A>G g.47663707A>G PHKB(NM_001031835.3):c.2288A>G (p.Y763C) - PHKB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2309A>G r.(?) p.(Tyr770Cys) Parent #1 - likely benign g.47697618A>G g.47663707A>G - - PHKB_000008 102 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16945474 Germline - 102/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 102 Mohammed Faruq
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