Genomic variant #0000334837

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.92928252C>A
DNA change (hg38) -
Published as NAP1L3(NM_004538.5):c.52G>T (p.(Ala18Ser))
ISCN -
DB-ID NAP1L3_000004
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     
NAP1L3 NM_004538.5 ?/. - c.52G>T VUS r.(?) p.(Ala18Ser)
FAM133A NM_173698.2 ?/. - c.-1266C>A VUS r.(?) p.(=)