View genomic variant #0000000951

Chromosome 3
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.128598664T>A
Published as -
GERP 5.610
Segregation -
DB-ID ACAD9_000008
dbSNP ID rs387907041
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Position     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACAD9 NM_014049.4 +/+ - 1/7 c.130T>A - p.(Phe44Ile) probably_damaging(0.91) missense_variant,NMD_transcript_variant - tolerated(0.08)
ACAD9 NR_033426.1 +/+ - 1/18 n.332T>A - - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -


ClinVar @ MSeqDR

39838
MedGen:C1970173,OMIM:611126,Orphanet:ORPHA99901
Acyl-CoA dehydrogenase family, member 9, deficiency of
HGVS variant names NC 000003.11:g.128598664T>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:611103.0002,UniProtKB (protein):Q9H845#VAR 071892
Gene symbol:Gene id. ACAD9:28976
SO:0001583|missense variant
1
dbSNP ID 387907041
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