View genomic variant #0000025396

Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.7124319_7124358del
Published as -
GERP -
Segregation -
DB-ID ACADVL_000280
MSCV -
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Lishuang Shen




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 0000025396 ./. - - c.419_458del p.(Gly143Alafs*61) - - - -
ACADVL 00000391 NM_001033859.2 0000025396 ./. - - c.353_392del p.(Gly121Alafs*61) - - - -
ACADVL 00000388 NM_001270447.1 0000025396 ./. - - c.488_527del p.(Gly166Alafs*61) - - - -
ACADVL 00000389 NM_001270448.1 0000025396 ./. - - c.191_230del p.(Gly67Alafs*61) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV001999308;
Chromosome 17:7124318..7124318
ClinVar Allele ID 1395534
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.7124318G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. ACADVL:37
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 2142969408
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000480851; RCV000671508;
Chromosome 17:7124319..7124358
ClinVar Allele ID 410235
Disease database name and identifier MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793|MedGen:C3661900
ClinVar preferred disease name Very long chain acyl-CoA dehydrogenase deficiency|not provided
HGVS variant names NC 000017.10:g.7124328 7124367del
ClinVar review status reviewed by expert panel
Clinical Significance Pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Variant clinical sources reported ClinGen:CA8337697
Gene symbol:Gene id. ACADVL:37
Molecular consequence SO:0001589|frameshift variant
Allele origin germline
dbSNP ID 758144859
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV001042754;
Chromosome 17:7124319..7124319
ClinVar Allele ID 846143
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.7124319G>A
ClinVar review status reviewed by expert panel
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. ACADVL:37
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 2071185757
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