View genomic variant #0000000675

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.7123838C>T
Published as -
GERP -7.830
Segregation -
DB-ID ACADVL_000025 See all 2 reported entries
MSCV MSCV_0000675
dbSNP ID rs28934585
Frequency -
Sources ; clinvar;
Reference 10790204;20301763;23757202
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.03383 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 0000000675 -/- - 3/6 c.194C>T p.? benign(0.023) missense_variant - tolerated(0.11)
ACADVL 00000391 NM_001033859.2 0000000675 -/- - - c.139-85C>T p.(=) - - - -
ACADVL 00000388 NM_001270447.1 0000000675 -/- - 4/21 c.263C>T p.(Pro88Leu) benign(0.001) missense_variant - tolerated(0.08)
ACADVL 00000389 NM_001270448.1 0000000675 -/- - - c.-35C>T p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000020076; RCV000077913; RCV000420053;
Chromosome 17:7123838..7123838
Allele frequencies from ExAC 0.01048
Allele frequencies from TGP 0.03914
ClinVar Allele ID 16670
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.7123838C>T
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:CA285292|OMIM:609575.0011|UniProtKB:P49748#VAR 048176
Gene symbol:Gene id. ACADVL:37
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 28934585
For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB Very long chain acyl-CoA dehydrogenase deficiency
Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. 441528:Pathogenic
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV003036126;
Chromosome 17:7123839..7123862
ClinVar Allele ID 2185884
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.7123844 7123867del
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Gene symbol:Gene id. ACADVL:37
Molecular consequence SO:0001575|splice donor variant, SO:0001627|intron variant
Allele origin germline
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