View genomic variant #0000000674

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.7123506G>A
Published as -
GERP 0.591
Segregation -
DB-ID ACADVL_000024 See all 2 reported entries
MSCV MSCV_0000674
dbSNP ID rs2230178
Frequency -
Sources ; clinvar;
Reference 20301763
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.01135 View details
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 0000000674 -/- - 2/6 c.128G>A p.? unknown(0) missense_variant - tolerated(0.5)
ACADVL 00000391 NM_001033859.2 0000000674 -/- - 2/6 c.128G>A p.(Gly43Asp) unknown(0) missense_variant - tolerated(0.5)
ACADVL 00000388 NM_001270447.1 0000000674 -/- - 3/21 c.197G>A p.(Gly66Asp) benign(0.289) missense_variant - tolerated(0.34)
ACADVL 00000389 NM_001270448.1 0000000674 -/- - - c.-101G>A p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000020071; RCV000253810; RCV001689571;
Chromosome 17:7123506..7123506
Allele frequencies from ESP 0.01135
Allele frequencies from ExAC 0.03278
Allele frequencies from TGP 0.06070
ClinVar Allele ID 33867
Disease database name and identifier MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
ClinVar preferred disease name not specified|not provided|Very long chain acyl-CoA dehydrogenase deficiency
HGVS variant names NC 000017.10:g.7123506G>A
ClinVar review status reviewed by expert panel
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA341517|UniProtKB:P49748#VAR 000330
Gene symbol:Gene id. ACADVL:37|LOC130060113:130060113
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin germline
dbSNP ID 2230178
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