Variant #0000680584 (NC_000016.9:g.47684830C>T, PHKB(NM_000293.2):c.1969C>T)

Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47684830C>T
DNA change (hg38) -
Published as PHKB(NM_001031835.2):c.1948C>T (p.Q650*), PHKB(NM_001031835.3):c.1948C>T (p.Q650*)
ISCN -
DB-ID PHKB_000002 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00011 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHKB NM_000293.2 +/. - c.1969C>T r.(?) p.(Gln657Ter)