View genomic variant #0000018012

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.7124115A>G
Published as -
GERP -
Segregation -
DB-ID ACADVL_000063
MSCV MSCV_0018012
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00431 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 0000018012 ./. - - c.308A>G p.(Lys103Arg) - - - -
ACADVL 00000391 NM_001033859.2 0000018012 ./. - - c.242A>G p.(Lys81Arg) - - - -
ACADVL 00000388 NM_001270447.1 0000018012 ./. - - c.377A>G p.(Lys126Arg) - - - -
ACADVL 00000389 NM_001270448.1 0000018012 ./. - - c.80A>G p.(Lys27Arg) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000241751; RCV001122813; RCV001508430;
Chromosome 17:7124115..7124115
Allele frequencies from ESP 0.00431
Allele frequencies from ExAC 0.00165
Allele frequencies from TGP 0.00739
ClinVar Allele ID 256363
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.7124115A>G
ClinVar review status reviewed by expert panel
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA8337646
Gene symbol:Gene id. ACADVL:37
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 140566084
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