Variant #0000549050 (NC_000012.11:g.69083372C>T, NUP107(NM_020401.2):c.160C>T)

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.69083372C>T
DNA change (hg38) g.68689592C>T
Published as NUP107(NM_020401.2):c.160C>T (p.(Arg54Ter))
ISCN -
DB-ID NUP107_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NUP107 NM_020401.2 ?/. - c.160C>T r.(?) p.(Arg54Ter)