Variant #0000614364 (NC_000012.11:g.69140546T>G, NUP107(NM_020401.2):c.*4304T>G)

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.69140546T>G
DNA change (hg38) g.68746766T>G
Published as SLC35E3(NM_018656.2):c.389T>G (p.(Ile130Ser))
ISCN -
DB-ID NUP107_000015
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     
SLC35E3 NM_018656.2 -?/. - c.389T>G r.(?) p.(Ile130Ser)
NUP107 NM_020401.2 -?/. - c.*4304T>G r.(=) p.(=)