Genomic variant #0000000955

Chromosome 3
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.128625063C>T
Published as -
GERP 4.770
Segregation -
DB-ID ACAD9_000003
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Position     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACAD9 NM_014049.4 +/+ - 12/18 c.1249C>T - p.(Arg417Cys) probably_damaging(1) missense_variant - deleterious(0)
ACAD9 NR_033426.1 +/+ - 12/18 n.1627C>T - - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -


ClinVar @ MSeqDR

0.0001
0.00001
39837
MedGen:C1970173,OMIM:611126,Orphanet:ORPHA99901
Acyl-CoA dehydrogenase family, member 9, deficiency of
HGVS variant names NC 000003.11:g.128625063C>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:611103.0004|UniProtKB (protein):Q9H845#VAR 071902
Gene symbol:Gene id. ACAD9:28976
SO:0001583|missense variant
1
dbSNP ID 368949613
MedGen:C1970173,OMIM:611126,Orphanet:ORPHA99901
Acyl-CoA dehydrogenase family, member 9, deficiency of
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