View genomic variant #0000000955

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.128625063C>T
Published as -
GERP 4.770
Segregation -
DB-ID ACAD9_000003 See all 2 reported entries
MSCV MSCV_0000955
dbSNP ID rs368949613
Frequency -
Sources ; clinVar;
Reference 21057504
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 8.0E-5 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 0000000955 +/+ - 12/18 c.1249C>T - p.(Arg417Cys) probably_damaging(1) missense_variant - deleterious(0)
ACAD9 00000015 NR_033426.1 0000000955 +/+ - 12/18 n.1627C>T - - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000023865; RCV000201722;
Chromosome 3:128625063..128625063
Allele frequencies from ESP 0.0001
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 39837
Disease database name and identifier MedGen:C1970173, OMIM:611126, Orphanet:ORPHA99901
ClinVar preferred disease name Acyl-CoA dehydrogenase family, member 9, deficiency of
HGVS variant names NC 000003.11:g.128625063C>T
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:611103.0004|UniProtKB (protein):Q9H845#VAR 071902
Gene symbol:Gene id. ACAD9:28976
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 368949613
For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN MedGen:C1970173, OMIM:611126, Orphanet:ORPHA99901
For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB Acyl-CoA dehydrogenase family, member 9, deficiency of
Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. 424744:Pathogenic
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