Variant #0000714814 (NC_000016.9:g.47630364C>T, PHKB(NM_000293.2):c.1285C>T)

Individual ID 00329066
Chromosome 16
Allele Parent #1
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.47630364C>T
DNA change (hg38) g.47596453C>T
Published as R429X
ISCN -
DB-ID PHKB_000026 See all 2 reported entries
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) 3.0E-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.1285C>T r.(?) p.(Arg429*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000330283 DNA SEQ - - PHKB 2 LOVD