Variant #0000795649 (NC_000014.8:g.74764696C>T, ABCD4(NM_005050.3):c.362G>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.74764696C>T
DNA change (hg38) g.74297993C>T
Published as different transcript: NM_001353592.1:c.362G>A; p.Arg121His
ISCN -
DB-ID ABCD4_000011 See all 2 reported entries
Variant remarks -
Reference PubMed: Nair 2018
ClinVar ID -
dbSNP ID rs201744101
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCD4 NM_005050.3 +?/. - c.362G>A r.(?) p.(Arg121His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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