Variant #0000714863 (NC_000016.9:g.47549491_47549495del, PHKB(NM_000293.2):c.573_577del)

Individual ID 00329066
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.47549491_47549495del
DNA change (hg38) g.47515580_47515584del
Published as 573_577delGATTA
ISCN -
DB-ID PHKB_000024
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) Variant not found in online data sets
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.573_577del r.(?) p.(Gln191Hisfs*5)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000330283 DNA SEQ - - PHKB 2 LOVD