View genomic variant #0000000949

Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type ins
DNA change (genomic) (Relative to hg19 / GRCh37) g.128598490_128598491insTAAG
Published as -
GERP -
Segregation -
DB-ID ACAD9_000006 See all 2 reported entries
MSCV MSCV_0000949
dbSNP ID rs387906242
Frequency -
Sources ; clinVar;
Reference 17564966
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.04487 View details
Owner LOVD




Variant on transcripts

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Position     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACAD9 00000014 NM_014049.4 0000000949 +?/+? - - c.-45_-44insTAAG - p.(=) - - - -
ACAD9 00000015 NR_033426.1 0000000949 +?/+? - 1/18 n.158_159insTAAG - - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000001073; RCV000201519;
Chromosome 3:128598491..128598494
ClinVar Allele ID 16057
Disease database name and identifier MedGen:C1970173, OMIM:611126, Orphanet:ORPHA99901|MedGen:CN169374
ClinVar preferred disease name Acyl-CoA dehydrogenase family, member 9, deficiency of|not specified
HGVS variant names NC 000003.11:g.128598491 128598494dupTAAG
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Benign(1), Likely benign(1), Pathogenic(1)
Variant type Duplication
Sequence Ontology for variant type SO:1000035
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:582251|OMIM Allelic Variant:611103.0001
Gene symbol:Gene id. ACAD9:28976
Molecular consequence SO:0001623|5 prime UTR variant
Allele origin germline
dbSNP ID 387906242
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None