Variant #0000854523 (NC_000016.9:g.47695630G>A, PHKB(NM_000293.2):c.2197G>A)

Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.47695630G>A
DNA change (hg38) -
Published as PHKB(NM_001031835.2):c.2176G>A (p.D726N)
ISCN -
DB-ID PHKB_000030
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHKB NM_000293.2 ?/. - c.2197G>A r.(?) p.(Asp733Asn)