Variant #0000002826 (NC_000007.14:g.205398_205399insTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCCGATTTCTCCATTTTTTT, NM_001160210.1:c.*95915792_*95915793insAAAAAAATGGAGAAATCGGGGGGCGGGGCTGCCAAGGGAGGAGGAAGATGGCGGCGGGGGCGAGGTGAGGTGTTGGCAGTGGAAAGGGGTTCGGGCTCGGGGGGCGGGGGGACNNNNNNNNNNAAAAAAAAAA (SLC25A13))

Individual ID 00000664
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.205398_205399insTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCCGATTTCTCCATTTTTTT
Published as IVS16ins3kb
Reference Hock Lock Ngu et al.(2010)
DB-ID SLC25A13_000001 See all 7 reported entries
dbSNP ID -
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 2021-06-01 16:21:50 +08:00 (CST)
Date last edited 2021-08-01 13:01:15 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
SLC25A13 NM_001160210.1 +/. 16i c.*95915792_*95915793insAAAAAAATGGAGAAATCGGGGGGCGGGGCTGCCAAGGGAGGAGGAAGATGGCGGCGGGGGCGAGGTGAGGTGTTGGCAGTGGAAAGGGGTTCGGGCTCGGGGGGCGGGGGGACNNNNNNNNNNAAAAAAAAAA - r.(=) p.(=) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000731 DNA ? SLC25A13 1 Nur Aisyah Athirah