Variant #0000714864 (NC_000016.9:g.47698889A>G, PHKB(NM_000293.2):c.2427+3A>G)

Individual ID 00329067
Chromosome 16
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.47698889A>G
DNA change (hg38) g.47664978A>G
Published as -
ISCN -
DB-ID PHKB_000027
Variant remarks -
Reference PubMed: Davit-Spraul 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner LOVD
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.2427+3A>G r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000330284 DNA SEQ - - PHKB 2 LOVD