Genomic variant #0000598376

Individual ID 00266196
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.119064054C>T
DNA change (hg38) g.119930091C>T
Published as -
ISCN -
DB-ID NKAP_000020 See all 6 reported entries
Variant remarks probable germline mosaicism mother
Reference PubMed: Fiordaliso 2019
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NKAP NM_024528.3 +/. - c.998G>A r.(?) p.(Arg333Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000267317 DNA SEQ;SEQ-NG - WES NKAP 1 Johan den Dunnen