View genomic variant #0000000956

Chromosome 3
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.128628894C>T
Published as -
GERP 1.830
Segregation -
DB-ID ACAD9_000004
dbSNP ID rs377022708
Frequency -
Sources ; clinVar;
Reference 21057504;22499348
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 +/+ - 16/18 c.1594C>T - p.(Arg532Trp) probably_damaging(0.995) missense_variant - deleterious(0)
ACAD9 NR_033426.1 +/+ - 16/18 n.1972C>T - - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -


ClinVar @ MSeqDR

0.0001
0.00001
39841
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.128628894C>T
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:611103.0006,UniProtKB (protein):Q9H845#VAR 071905
Gene symbol:Gene id. ACAD9:28976
SO:0001583|missense variant
1
dbSNP ID 377022708
MedGen:C1970173,OMIM:611126,Orphanet:ORPHA99901
Acyl-CoA dehydrogenase family, member 9, deficiency of
424746: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