View genomic variant #0000000672

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.7123352C>T
Published as -
GERP -4.660
Segregation -
DB-ID ACADVL_000030 See all 2 reported entries
MSCV MSCV_0000672
dbSNP ID rs2230179
Frequency -
Sources ; clinvar;
Reference 20301763
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.0218 View details
Owner LOVD




Variant on transcripts

5 entries on 1 page. Showing entries 1 - 5.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

DNA change (cDNA)     

Exon     

Protein     

GVS function     

Position     

PolyPhen     

RNA change     

Splice distance     

SIFT     
ACADVL 00000390 NM_000018.3 0000000672 -/- - c.49C>T 1/19 p.? missense_variant,NMD_transcript_variant - unknown(0) r.? - -
ACADVL 00000391 NM_001033859.2 0000000672 -/- - c.49C>T 1/19 p.(Leu17Phe) missense_variant,NMD_transcript_variant - unknown(0) r.(?) - -
ACADVL 00000388 NM_001270447.1 0000000672 -/- - c.132-89C>T - p.(=) - - - r.(=) - -
ACADVL 00000389 NM_001270448.1 0000000672 -/- - c.-255C>T - p.(=) - - - r.(=) - -
DLG4 00003308 NM_001365.3 0000000672 -/- - c.-1184G>A - p.(=) - - - r.(=) - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000020078; RCV000224359; RCV000251701;
Chromosome 17:7123352..7123352
Allele frequencies from ESP 0.02180
Allele frequencies from ExAC 0.00717
Allele frequencies from TGP 0.02117
ClinVar Allele ID 33874
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.7123352C>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:CA341522|UniProtKB:P49748#VAR 029286
Gene symbol:Gene id. DLG4:1742|ACADVL:37
Molecular consequence SO:0001583|missense variant, SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 2230179
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