View genomic variant #0000000956

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.128628894C>T
Published as -
GERP 1.830
Segregation -
DB-ID ACAD9_000004 See all 2 reported entries
MSCV MSCV_0000956
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

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 0000000956 +/+ - 16/18 c.1594C>T - p.(Arg532Trp) probably_damaging(0.995) missense_variant - deleterious(0)
ACAD9 00000015 NR_033426.1 0000000956 +/+ - 16/18 n.1972C>T - - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000023869; RCV000201606; RCV000200123;
Chromosome 3:128628894..128628894
Allele frequencies from ESP 0.0001
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 39841
Disease database name and identifier MedGen:C1970173, OMIM:611126, Orphanet:ORPHA99901|MedGen:CN517202
ClinVar preferred disease name Acyl-CoA dehydrogenase family, member 9, deficiency of|not provided
HGVS variant names NC 000003.11:g.128628894C>T
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:611103.0006|UniProtKB (protein):Q9H845#VAR 071905
Gene symbol:Gene id. ACAD9:28976|KIAA1257:57501
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 377022708
For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN MedGen:C1970173, OMIM:611126, Orphanet:ORPHA99901
For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB Acyl-CoA dehydrogenase family, member 9, deficiency of
Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. 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