Genomic variant #0000333799

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.41060416T>A
DNA change (hg38) -
Published as USP9X(NM_001039590.2):c.4707T>A (p.(Asn1569Lys))
ISCN -
DB-ID USP9X_000063
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
USP9X NM_001039590.2 ?/. - c.4707T>A VUS r.(?) p.(Asn1569Lys)