Variant #0000458891 (NC_000023.10:g.108912383T>C, ACSL4(NM_022977.2):c.1145A>G)

Individual ID 00225482
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.108912383T>C
DNA change (hg38) g.109669154T>C
Published as -
ISCN -
DB-ID ACSL4_000027 See all 2 reported entries
Variant remarks -
Reference PubMed: Morimoto 2018, Journal: Morimoto 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACSL4 NM_022977.2 ?/. - c.1145A>G r.(?) p.(Tyr382Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226561 DNA SEQ;SEQ-NG - WES CCDC47 6 Johan den Dunnen