Variant #0000763164 (NC_000012.11:g.69084526G>A, NUP107(NM_020401.2):c.303G>A)

Individual ID 00361562
Chromosome 12
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.69084526G>A
DNA change (hg38) g.68690746G>A
Published as -
ISCN -
DB-ID NUP107_000004 See all 2 reported entries
Variant remarks -
Reference PubMed: Anazi 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NUP107 NM_020401.2 +/. - c.303G>A r.(?) p.(Met101Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000362790 DNA SEQ-NG - WES NUP107 1 Johan den Dunnen