Variant #0000549051 (NC_000012.11:g.69090592G>T, NUP107(NM_020401.2):c.449-7G>T)

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.69090592G>T
DNA change (hg38) g.68696812G>T
Published as NUP107(NM_020401.2):c.449-7G>T (p.(=))
ISCN -
DB-ID NUP107_000006
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) 8.0E-5 View details
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.449-7G>T r.(=) p.(=)