Genomic variant #0000577787

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.92928135_92928161del
DNA change (hg38) -
Published as NAP1L3(NM_004538.5):c.148_174del (p.(Ser50_Ser58del))
ISCN -
DB-ID NAP1L3_000009
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) 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.148_174del likely benign r.(?) p.(Ser50_Ser58del)
FAM133A NM_173698.2 -?/. - c.-1383_-1357del likely benign r.(?) p.(=)