View genomic variant #0000025364

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.7123517_7123518insT
Published as -
GERP -
Segregation -
DB-ID ACADVL_000246
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 0000025364 ./. - - c.138+1_138+2insT p.? - - - -
ACADVL 00000391 NM_001033859.2 0000025364 ./. - - c.138+1_138+2insT p.? - - - -
ACADVL 00000388 NM_001270447.1 0000025364 ./. - - c.207+1_207+2insT p.? - - - -
ACADVL 00000389 NM_001270448.1 0000025364 ./. - - c.-91+1_-91+2insT p.? - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV001906051;
Chromosome 17:7123516..7123516
ClinVar Allele ID 1437812
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.7123516G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. ACADVL:37|LOC130060113:130060113
Molecular consequence SO:0001623|5 prime UTR variant, SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 775956800
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000665642;
Chromosome 17:7123517..7123517
Allele frequencies from ExAC 0.00009
ClinVar Allele ID 548238
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.7123517G>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|LOC130060113:130060113
Molecular consequence SO:0001575|splice donor variant
Allele origin germline
dbSNP ID 747351687
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000523516; RCV000666464;
Chromosome 17:7123517..7123518
ClinVar Allele ID 445883
Disease database name and identifier MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793|MedGen:CN517202
ClinVar preferred disease name Very long chain acyl-CoA dehydrogenase deficiency|not provided
HGVS variant names NC 000017.10:g.7123518dup
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Pathogenic(1)|Likely pathogenic(1)|Uncertain significance(2)
Variant type Duplication
Sequence Ontology for variant type SO:1000035
Variant clinical sources reported ClinGen:CA658658531
Gene symbol:Gene id. ACADVL:37|LOC130060113:130060113
Molecular consequence SO:0001575|splice donor variant
Allele origin germline
dbSNP ID 1555527548
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000410269;
Chromosome 17:7123518..7123518
ClinVar Allele ID 358459
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.7123518T>C
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA16041857
Gene symbol:Gene id. ACADVL:37|LOC130060113:130060113
Molecular consequence SO:0001575|splice donor variant
Allele origin germline
dbSNP ID 1057516817
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