Variant #0000926633 (NC_000017.10:g.7127674G>A, NM_000018.3:c.1567G>A (ACADVL))

Chromosome 17
Allele Unknown
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.7127674G>A
DNA change (hg38) -
Published as ACADVL(NM_000018.3):c.1567G>A (p.(Gly523Arg)), ACADVL(NM_000018.4):c.1567G>A (p.G523R)
ISCN -
DB-ID DVL2_000003 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00042 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2023-04-16 21:50:28 +02:00 (CEST)
Date last edited 2025-02-07 18:57:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACADVL NM_000018.3 ?/. - c.1567G>A r.(?) p.(Gly523Arg)
DLG4 NM_001365.3 ?/. - c.-5506C>T r.(?) p.(=)
DVL2 NM_004422.2 ?/. - c.*1510C>T r.(=) p.(=)


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