Variant #0000002669 (NC_000002.12:g.108751993C>T, RANBP2(NM_006267.5):c.1754C>T)

Individual ID 00000600
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.108751993C>T
Published as -
Reference H B Chew et al.(2020)
DB-ID RANBP2_000001 See all 3 reported entries
dbSNP ID rs121434502
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
RANBP2 NM_006267.5 +/. - c.1754C>T - r.(?) p.(Thr585Met) Conflicting interpretations of pathogenicity



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000666 DNA SEQ RANBP2 1 Nur Aisyah Athirah