View genomic variant #0000000949

Chromosome 3
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
Type ins
DNA change (genomic) (Relative to hg19 / GRCh37) g.128598490_128598491insTAAG
Published as -
GERP -
Segregation -
DB-ID ACAD9_000006
dbSNP ID rs387906242
Frequency -
Sources ; clinVar;
Reference 17564966
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.04487 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 +?/+? - - c.-45_-44insTAAG - p.(=) - - - -
ACAD9 NR_033426.1 +?/+? - 1/18 n.158_159insTAAG - - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -


ClinVar @ MSeqDR

16057
MedGen:C1970173,OMIM:611126,Orphanet:ORPHA99901|MedGen:CN169374
Acyl-CoA dehydrogenase family, member 9, deficiency of|not specified
HGVS variant names NC 000003.11:g.128598491 128598494dupTAAG
criteria provided, conflicting interpretations
Clinical Significance
Duplication
SO:1000035
Illumina Clinical Services Laboratory,Illumina:582251,OMIM Allelic Variant:611103.0001
Gene symbol:Gene id. ACAD9:28976
SO:0001623|5 prime UTR variant
1
dbSNP ID 387906242
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