View genomic variant #0000000677

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.7124126_7124128del
Published as -
GERP -
Segregation -
DB-ID ACADVL_000027
MSCV MSCV_0000677
dbSNP ID -
Frequency -
Sources ;
Reference -
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 0000000677 ?/? - - c.319_321del p.? - - - -
ACADVL 00000391 NM_001033859.2 0000000677 ?/? - - c.253_255del p.(Glu85del) - - - -
ACADVL 00000388 NM_001270447.1 0000000677 ?/? - - c.388_390del p.(Glu130del) - - - -
ACADVL 00000389 NM_001270448.1 0000000677 ?/? - - c.91_93del p.(Glu31del) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV002740573;
Chromosome 17:7124127..7124127
ClinVar Allele ID 2022748
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.7124127del
ClinVar review status criteria provided, single submitter
Clinical Significance 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
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