View genomic variant #0000000679

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.7124285_7124287del
Published as -
GERP -
Segregation -
DB-ID ACADVL_000029
MSCV MSCV_0000679
dbSNP ID rs387906251
Frequency -
Sources ;
Reference 8554073
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACADVL 00000390 NM_000018.3 0000000679 ?/? - - c.385_387del p.? - - - -
ACADVL 00000391 NM_001033859.2 0000000679 ?/? - - c.319_321del p.(Glu108del) - - - -
ACADVL 00000388 NM_001270447.1 0000000679 ?/? - - c.454_456del p.(Glu153del) - - - -
ACADVL 00000389 NM_001270448.1 0000000679 ?/? - - c.157_159del p.(Glu54del) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000593991; RCV001346101;
Chromosome 17:7124285..7124285
ClinVar Allele ID 492736
Disease database name and identifier MedGen:CN517202|MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
ClinVar preferred disease name not provided|Very long chain acyl-CoA dehydrogenase deficiency
HGVS variant names NC 000017.10:g.7124285G>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA397722790
Gene symbol:Gene id. ACADVL:37
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 1402849815
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV001388139;
Chromosome 17:7124287..7124287
ClinVar Allele ID 1064373
Disease database name and identifier MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
ClinVar preferred disease name Very long chain acyl-CoA dehydrogenase deficiency
HGVS variant names NC 000017.10:g.7124288del
ClinVar review status reviewed by expert panel
Clinical Significance Likely pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Gene symbol:Gene id. ACADVL:37
Molecular consequence SO:0001589|frameshift variant
Allele origin germline
dbSNP ID 2142969054
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV003460223;
Chromosome 17:7124287..7124288
ClinVar Allele ID 2833941
Disease database name and identifier MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
ClinVar preferred disease name Very long chain acyl-CoA dehydrogenase deficiency
HGVS variant names NC 000017.10:g.7124288GA[4]
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type Microsatellite
Sequence Ontology for variant type SO:0000289
Gene symbol:Gene id. ACADVL:37
Molecular consequence SO:0001589|frameshift variant
Allele origin unknown
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