View genomic variant #0000017994

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.7123439A>C
Published as -
GERP -
Segregation -
DB-ID ACADVL_000174
MSCV MSCV_0017994
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 0000017994 ./. - - c.63-2A>C p.? - - - -
ACADVL 00000391 NM_001033859.2 0000017994 ./. - - c.63-2A>C p.? - - - -
ACADVL 00000388 NM_001270447.1 0000017994 ./. - - c.132-2A>C p.? - - - -
ACADVL 00000389 NM_001270448.1 0000017994 ./. - - c.-168A>C p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000531909;
Chromosome 17:7123439..7123439
ClinVar Allele ID 469011
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.7123439A>C
ClinVar review status reviewed by expert panel
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA397722016
Gene symbol:Gene id. ACADVL:37|LOC130060113:130060113
Molecular consequence SO:0001574|splice acceptor variant, SO:0001623|5 prime UTR variant
Allele origin germline
dbSNP ID 1555527513
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