Genomic variant #0000401206

Individual ID 00173666
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.119070328_119070330del
DNA change (hg38) -
Published as 603_605delATC S202_K203>K
ISCN -
DB-ID NKAP_000016
Variant remarks recurrent, found 9 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 9/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.11406 View details
Owner Lucy Raymond




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NKAP NM_024528.3 ?/. 4 c.603_605del - r.(?) p.(Ser202del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174549 DNA SEQ - - ZBED1 1 Lucy Raymond