Variant #0000002584 (NC_000023.11:g.153743457C>T, ABCD1(NM_000033.3):c.1992-32C>T)

Individual ID 00000578
Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.153743457C>T
Published as -
Reference Kun-Long Hung et al.(2013)
DB-ID ABCD1_000004
dbSNP ID rs4898368
Frequency 3/8
Variant remarks -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
ABCD1 NM_000033.3 -/. 9i c.1992-32C>T - r.(=) p.(=) Benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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