Variant #0000002583 (NC_000023.11:g.153743503A>G, NM_000033.3:c.2006A>G (ABCD1))

Individual ID 00000578
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.153743503A>G
Published as -
Reference Kun-Long Hung et al.(2013)
DB-ID ABCD1_000003
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 2021-04-11 10:30:14 +08:00 (CST)
Date last edited 2021-08-01 14:08:31 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
ABCD1 NM_000033.3 +/. 10 c.2006A>G - r.(?) p.(His669Arg) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000637 DNA RT-PCR;SEQ ABCD1 4 Nur Aisyah Athirah