Variant #0000398570 (NC_000016.9:g.47694729A>G, PHKB(NM_000293.2):c.2195A>G)

Individual ID 00174819
Chromosome 16
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.47694729A>G
DNA change (hg38) g.47660818A>G
Published as -
ISCN -
DB-ID PHKB_000010
Variant remarks ACMG grading: PP3; additional variants in MYF6, POMT1, MYH2
Reference PubMed: Fichna 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00036 View details
Owner Johan den Dunnen
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.2195A>G r.(?) p.(Asn732Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175710 DNA SEQ-NG - WES - 3 Johan den Dunnen