Variant #0000002902 (NC_000007.14:g.96121929_96121951dup, NM_014251.2:c.1638_1660dup (SLC25A13))

Individual ID 00000711
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.96121929_96121951dup
Published as -
Reference Hui Bein Chew et al.(2010)
DB-ID SLC25A13_000004
dbSNP ID rs80338725
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
Date created 2021-06-27 09:55:06 +08:00 (CST)
Date last edited 2021-08-01 13:11:33 +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     
SLC25A13 NM_014251.2 +/. 16 c.1638_1660dup 1638ins23 r.(?) p.(Ala554Glyfs*17) Pathogenic​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000784 DNA PCR SLC25A13 2 Nur Aisyah Athirah