Variant #0000304667 (NC_000012.11:g.69085797G>A, NUP107(NM_020401.2):c.353G>A)

Chromosome 12
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.69085797G>A
DNA change (hg38) g.68692017G>A
Published as NUP107(NM_001330192.1):c.266G>A (p.R89H), NUP107(NM_001330192.2):c.266G>A (p.R89H)
ISCN -
DB-ID NUP107_000001 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 (gnomAD v.2.1.1) 0.00285 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NUP107 NM_020401.2 -?/. - c.353G>A r.(?) p.(Arg118His)