Variant #0000067250 (NC_000016.9:g.47536996G>A, PHKB(NM_000293.2):c.400G>A)

Individual ID 00039399
Chromosome 16
Allele Both (homozygous)
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.47536996G>A
DNA change (hg38) g.47503085G>A
Published as -
ISCN -
DB-ID PHKB_000005 See all 2 reported entries
Variant remarks -
Reference PubMed: Bosch 2016, Journal: Bosch 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00183 View details
Owner Danielle Bosch
Database submission license No license selected
Created by Danielle Bosch
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHKB NM_000293.2 -?/. 4 c.400G>A r.(?) p.(Asp134Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000039640 DNA SEQ-NG - - - 7 Danielle Bosch