View genomic variant #0000018016

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.7124150G>C
Published as -
GERP -
Segregation -
DB-ID ACADVL_000070
MSCV MSCV_0018016
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 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 0000018016 ./. - - c.342+1G>C p.? - - - -
ACADVL 00000391 NM_001033859.2 0000018016 ./. - - c.276+1G>C p.? - - - -
ACADVL 00000388 NM_001270447.1 0000018016 ./. - - c.411+1G>C p.? - - - -
ACADVL 00000389 NM_001270448.1 0000018016 ./. - - c.114+1G>C p.? - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV002286684;
Chromosome 17:7124150..7124150
ClinVar Allele ID 1706004
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.7124150G>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:0001575|splice donor variant
Allele origin germline
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000556138;
Chromosome 17:7124150..7124150
ClinVar Allele ID 468777
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.7124150G>C
ClinVar review status reviewed by expert panel
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA397722627
Gene symbol:Gene id. ACADVL:37
Molecular consequence SO:0001575|splice donor variant
Allele origin germline
dbSNP ID 780020193
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