Genomic variant #0000573232

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.119070252G>A
DNA change (hg38) -
Published as NKAP(NM_024528.3):c.673+8C>T (p.(=))
ISCN -
DB-ID NKAP_000017
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 9.0E-5 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NKAP NM_024528.3 -?/. - c.673+8C>T likely benign r.(=) p.(=)