Genomic variant #0000000953

Chromosome 3
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.128622922G>A
Published as -
GERP 5.540
Segregation -
DB-ID ACAD9_000001
dbSNP ID rs115532916
Frequency -
Sources ; clinVar;
Reference 21057504
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.01522 View details
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Position     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACAD9 NM_014049.4 +/+ - 10/18 c.976G>A - p.(Ala326Thr) probably_damaging(0.968) missense_variant - deleterious(0)
ACAD9 NR_033426.1 +/+ - 10/18 n.1354G>A - - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -


ClinVar @ MSeqDR

0.0152
0.01823
0.0078
139956
MedGen:C1970173,OMIM:611126,Orphanet:ORPHA99901|MedGen:CN169374
Acyl-CoA dehydrogenase family, member 9, deficiency of|not specified
HGVS variant names NC 000003.11:g.128622922G>A
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
ARUP Laboratories, Molecular Genetics and Genomics:85187|Illumina Clinical Services Laboratory,Illumina:93632|UniProtKB (protein):Q9H845#VAR 071899
Gene symbol:Gene id. ACAD9:28976
SO:0001583|missense variant
1
dbSNP ID 115532916
MedGen:C1970173,OMIM:611126,Orphanet:ORPHA99901
Acyl-CoA dehydrogenase family, member 9, deficiency of
424747:Pathogenic
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

39840
MedGen:C1970173,OMIM:611126,Orphanet:ORPHA99901|MedGen:CN517202
Acyl-CoA dehydrogenase family, member 9, deficiency of|not provided
HGVS variant names NC 000003.11:g.128622922G>C
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:611103.0005
Gene symbol:Gene id. ACAD9:28976
SO:0001583|missense variant
1
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