View genomic variant #0000018002

Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.7123518T>C
Published as -
GERP -
Segregation -
DB-ID ACADVL_000085
MSCV MSCV_0018002
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 0000018002 ./. - - c.138+2T>C p.? - - - -
ACADVL 00000391 NM_001033859.2 0000018002 ./. - - c.138+2T>C p.? - - - -
ACADVL 00000388 NM_001270447.1 0000018002 ./. - - c.207+2T>C p.? - - - -
ACADVL 00000389 NM_001270448.1 0000018002 ./. - - c.-91+2T>C p.? - - - -
Legend  


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