Individual #00000552

Reference Yuan-Zong Song et al.(2013)
Gender M
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases CTLN2
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000603 DNA PCR;SEQ SLC25A13 1 Nur Aisyah Athirah



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

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DB-ID     

dbSNP ID     

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Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

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RNA change     

Protein     

GVS function     

Clinical classification     
7 Unknown +/. g.96208891C>T - Yuan-Zong Song et al.(2013) SLC25A13_000005 rs1269555090 - - Nur Aisyah Athirah SLC25A13 - NM_014251.2:c.415G>A - r.(?) p.(Gly139Arg) - Uncertain significance
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