Variant #0000824020 (NC_000023.10:g.108906532G>A, ACSL4(NM_022977.2):c.1613C>T)

Individual ID 00392046
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.108906532G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID ACSL4_000037 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Alejandro Brea-Fernández
Database submission license Creative Commons Attribution-NoDerivatives 4.0 InternationalCreative Commons License
Created by Alejandro Brea-Fernández
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACSL4 NM_022977.2 ?/. - c.1613C>T r.(?) p.(Ala538Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000393288 DNA SEQ-NG - WES - 1 Alejandro Brea-Fernández