Variant #0000002148 (NC_000002.12:g.208248388C>T, NM_001282386.1:c.395G>A (IDH1))

Individual ID 00000454
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.208248388C>T
Published as -
Reference Abdul Aziz Mohamed Yusoff et al. (2016), dbSNP, (OMIM 0001), ClinVar
DB-ID IDH1_000001 See all 2 reported entries
dbSNP ID rs121913500
Frequency 13/40
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2021-02-24 10:08:35 +08:00 (CST)
Date last edited 2021-09-05 14:55:28 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
IDH1 NM_001282386.1 +/. - c.395G>A - r.(?) p.(Arg132His) ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000493 DNA PCRm;SEQ IDH1 1 Nuur Athirah Binti Mohd Daud