Variant #0000405804 (NC_000012.11:g.121175648A>C, NM_000017.2:c.481A>C (ACADS))

Individual ID 00181027
Chromosome 12
Allele Maternal (confirmed)
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.121175648A>C
DNA change (hg38) g.120737845A>C
Published as -
ISCN -
DB-ID ACADS_000007 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Belen Perez
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Belen Perez
Date created 2018-09-21 13:24:05 +02:00 (CEST)
Date last edited 2019-03-01 13:26:36 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACADS NM_000017.2 +?/. - c.481A>C r.(?) p.(Ser161Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181975 DNA SEQ-NG-I - - ACADS 2 Belen Perez


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