Variant #0000686154 (NC_000001.10:g.76226846A>G, ACADM(NM_000016.4):c.985A>G)

Individual ID 00309860
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.76226846A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID ACADM_000003 See all 12 reported entries
Variant remarks -
Reference PubMed: Roman 2020, Journal: Roman 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0033 View details
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     
ACADM NM_000016.4 +/. - c.985A>G r.(?) p.(Lys329Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311004 DNA SEQ;SEQ-NG - WES ACADM 1 Johan den Dunnen