Full data view for gene PHKB

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. 20 c.1969C>T r.(?) p.(Gln657*) Paternal (inferred) - pathogenic g.47684830C>T g.47650919C>T - - PHKB_000002 - - - rs34667348 Germline - - - 0 - DNA SEQ, SEQ-NG-I - - GSD9B - - - M - Australia - - 0 - - 1 Shu Yau
+/. 20 c.1969C>T r.(?) p.(Gln657*) Maternal (inferred) - pathogenic g.47684830C>T g.47650919C>T - - PHKB_000002 - - - rs34667348 Germline - - - 0 - DNA SEQ, SEQ-NG-I - - GSD9B - - - M - Australia - - 0 - - 1 Shu Yau
+/. - c.1969C>T r.(?) p.(Gln657Ter) Unknown - pathogenic g.47684830C>T g.47650919C>T PHKB(NM_001031835.2):c.1948C>T (p.Q650*), PHKB(NM_001031835.3):c.1948C>T (p.Q650*) - PHKB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1969C>T r.(?) p.(Gln657Ter) Unknown - pathogenic g.47684830C>T - PHKB(NM_001031835.2):c.1948C>T (p.Q650*), PHKB(NM_001031835.3):c.1948C>T (p.Q650*) - PHKB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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