Variant #0000649325 (NC_000016.9:g.47549473G>T, PHKB(NM_000293.2):c.555G>T)

Individual ID 00291468
Chromosome 16
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.47549473G>T
DNA change (hg38) g.47515562G>T
Published as -
ISCN -
DB-ID PHKB_000007 See all 2 reported entries
Variant remarks 7 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs56257827
Origin Germline
Segregation -
Frequency 7/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01118 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHKB NM_000293.2 -?/. - c.555G>T r.(?) p.(Met185Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000292636 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq