View genomic variant #0000000673

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.7123446G>A
Published as -
GERP 2.680
Segregation -
DB-ID ACADVL_000031 See all 2 reported entries
MSCV MSCV_0000673
dbSNP ID rs34153370
Frequency -
Sources ; clinvar;
Reference 20301763
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 0000000673 -/- - 2/6 c.68G>A p.? benign(0.014) missense_variant - tolerated(0.33)
ACADVL 00000391 NM_001033859.2 0000000673 -/- - 2/6 c.68G>A p.(Arg23Gln) benign(0.014) missense_variant - tolerated(0.33)
ACADVL 00000388 NM_001270447.1 0000000673 -/- - 3/21 c.137G>A p.(Arg46Gln) benign(0.005) missense_variant - tolerated(0.06)
ACADVL 00000389 NM_001270448.1 0000000673 -/- - - c.-161G>A p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000020079; RCV000755204;
Chromosome 17:7123446..7123446
Allele frequencies from ExAC 0.00144
Allele frequencies from TGP 0.00060
ClinVar Allele ID 33875
Disease database name and identifier MedGen:C3661900|MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
ClinVar preferred disease name not provided|Very long chain acyl-CoA dehydrogenase deficiency
HGVS variant names NC 000017.10:g.7123446G>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:CA341524
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 34153370
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV002048630;
Chromosome 17:7123446..7123446
ClinVar Allele ID 1407124
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.7123446G>T
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
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 34153370
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