Genomic variant #0000334834

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.92928123_92928128del
DNA change (hg38) -
Published as NAP1L3(NM_004538.5):c.190_195del (p.(Ser64_Ser65del))
ISCN -
DB-ID NAP1L3_000002 See all 2 reported entries
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) 0.01036 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NAP1L3 NM_004538.5 ?/. - c.190_195del VUS r.(?) p.(Ser64_Ser65del)
FAM133A NM_173698.2 ?/. - c.-1395_-1390del VUS r.(?) p.(=)