View genomic variant #0000000952

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.128618293G>A
Published as -
GERP 5.320
Segregation -
DB-ID ACAD9_000005 See all 2 reported entries
MSCV MSCV_0000952
dbSNP ID rs387907042
Frequency -
Sources ; clinVar;
Reference 21057504
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
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 0000000952 +/+ - 7/18 c.797G>A - p.(Arg266Gln) probably_damaging(0.942) missense_variant - deleterious(0.01)
ACAD9 00000015 NR_033426.1 0000000952 +/+ - 7/18 n.1175G>A - - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000023867;
Chromosome 3:128618293..128618293
Allele frequencies from ExAC 0.00003
ClinVar Allele ID 39839
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.128618293G>A
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:611103.0003|UniProtKB (protein):Q9H845#VAR 071897
Gene symbol:Gene id. ACAD9:28976
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 387907042
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