View genomic variant #0000000954

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.128622922G>C
Published as -
GERP 5.540
Segregation -
DB-ID ACAD9_000002 See all 2 reported entries
MSCV MSCV_0000954
dbSNP ID rs115532916
Frequency -
Sources ;
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 0000000954 ./. - 10/18 c.976G>C - p.(Ala326Pro) probably_damaging(0.997) missense_variant - deleterious(0)
ACAD9 00000015 NR_033426.1 0000000954 ./. - 10/18 n.1354G>C - - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000201693; RCV000395019; RCV000123467;
Chromosome 3:128622922..128622922
Allele frequencies from ESP 0.0152
Allele frequencies from ExAC 0.01823
Allele frequencies from TGP 0.0078
ClinVar Allele ID 139956
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.128622922G>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign/Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ARUP Laboratories, Molecular Genetics and Genomics:85187|Illumina Clinical Services Laboratory, Illumina:93632|UniProtKB (protein):Q9H845#VAR 071899
Gene symbol:Gene id. ACAD9:28976
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 115532916
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. 424747:Pathogenic
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000023868; RCV000198883;
Chromosome 3:128622922..128622922
ClinVar Allele ID 39840
Disease database name and identifier MedGen:C1970173, OMIM:611126, Orphanet:ORPHA99901|MedGen:CN517202
ClinVar preferred disease name Acyl-CoA dehydrogenase family, member 9, deficiency of|not provided
HGVS variant names NC 000003.11:g.128622922G>C
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:611103.0005
Gene symbol:Gene id. ACAD9:28976
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 115532916
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