Variant #0000649324 (NC_000016.9:g.47545670A>G, PHKB(NM_000293.2):c.500A>G)

Individual ID 00291467
Chromosome 16
Allele Parent #1
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.47545670A>G
DNA change (hg38) g.47511759A>G
Published as -
ISCN -
DB-ID PHKB_000011 See all 2 reported entries
Variant remarks conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs151155518
Origin Germline
Segregation -
Frequency 2/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00464 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHKB NM_000293.2 ?/. - c.500A>G r.(?) p.(Tyr167Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000292635 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq