Variant #0000795672 (NC_000014.8:g.74754949G>T, ABCD4(NM_005050.3):c.1520C>A)

Individual ID 00380801
Chromosome 14
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.74754949G>T
DNA change (hg38) g.74288246G>T
Published as different transcript: NM_001353592.1 and error in annotation: c.1520C>A p.A507E belonging to NM_005050.3
ISCN -
DB-ID ABCD4_000003 See all 2 reported entries
Variant remarks -
Reference PubMed: Nair 2018
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCD4 NM_005050.3 +?/. - c.1520C>A r.(?) p.(Ala507Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000382015 DNA SEQ-NG-I - whole exome sequencing - 2 LOVD