Variant #0000598373 (NC_000023.10:g.119064064G>A, NKAP(NM_024528.3):c.988C>T)

Individual ID 00266193
Chromosome X
Allele Unknown
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.119064064G>A
DNA change (hg38) g.119930101G>A
Published as -
ISCN -
DB-ID NKAP_000022
Variant remarks -
Reference PubMed: Fiordaliso 2019
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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     
NKAP NM_024528.3 +/. - c.988C>T r.(?) p.(Arg330Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000267314 DNA SEQ;SEQ-NG - WES NKAP 1 Johan den Dunnen