Variant #0000061809 (NC_000003.11:g.128627021A>G, NC_000003.11(NM_014049.4):c.1279-7A>G (ACAD9))

Individual ID 00034620
Chromosome 3
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.128627021A>G
DNA change (hg38) g.128908178A>G
Published as -
ISCN -
DB-ID ACAD9_000003 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs1683787
Origin Germline
Segregation -
Frequency Frequency up to 2%
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.36787 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-04-02 13:01:39 +02:00 (CEST)
Date last edited 2016-11-12 11:03:31 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACAD9 NM_014049.4 -/. - c.1279-7A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034690 DNA SEQ - - ACAD9 1 Andreas Laner


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