Variant #0000002897 (NC_000007.14:g.96189372_96189375del, NM_014251.2:c.852_855del (SLC25A13))

Individual ID 00000708
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.96189372_96189375del
Published as -
Reference Hui Bein Chew et al.(2010)
DB-ID SLC25A13_000003 See all 5 reported entries
dbSNP ID rs80338720
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 09:43:42 +08:00 (CST)
Date last edited 2021-08-01 13:10:53 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

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DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
SLC25A13 NM_014251.2 +/. 9 c.852_855del 85del4 r.(?) p.(Met285Profs*2) Pathogenic



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000781 DNA PCR SLC25A13 1 Nur Aisyah Athirah