Variant #0000060728 (NC_000016.9:g.47630336T>A, PHKB(NM_000293.2):c.1257T>A)

Individual ID 00033817
Chromosome 16
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47630336T>A
DNA change (hg38) g.47596425T>A
Published as -
ISCN -
DB-ID PHKB_000003
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs121918021
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner Shu Yau
Database submission license No license selected
Created by Shu Yau
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHKB NM_000293.2 +/. 13 c.1257T>A r.(?) p.(Tyr419*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033883 DNA SEQ;SEQ-NG-I - - PHKB 1 Shu Yau