View genomic variant #0000000951

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.128598664T>A
Published as -
GERP 5.610
Segregation -
DB-ID ACAD9_000008 See all 2 reported entries
MSCV MSCV_0000951
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

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 0000000951 +/+ - 1/7 c.130T>A - p.(Phe44Ile) probably_damaging(0.91) missense_variant,NMD_transcript_variant - tolerated(0.08)
ACAD9 00000015 NR_033426.1 0000000951 +/+ - 1/18 n.332T>A - - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000023866;
Chromosome 3:128598664..128598664
ClinVar Allele ID 39838
Disease database name and identifier MedGen:C1970173, OMIM:611126, Orphanet:ORPHA99901
ClinVar preferred disease name Acyl-CoA dehydrogenase family, member 9, deficiency of
HGVS variant names NC 000003.11:g.128598664T>A
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:611103.0002|UniProtKB (protein):Q9H845#VAR 071892
Gene symbol:Gene id. ACAD9:28976
Molecular consequence SO:0001583|missense variant
Allele origin germline
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