Variant #0000304665 (NC_000012.11:g.69113375G>A, NUP107(NM_020401.2):c.1192G>A)

Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.69113375G>A
DNA change (hg38) g.68719595G>A
Published as NUP107(NM_001330192.1):c.1105G>A (p.V369I)
ISCN -
DB-ID NUP107_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NUP107 NM_020401.2 ?/. - c.1192G>A r.(?) p.(Val398Ile)