View genomic variant #0000025352

Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.7123306G>A
Published as -
GERP -
Segregation -
DB-ID DLG4_000011
MSCV -
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Lishuang Shen




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 0000025352 ./. - c.3G>A - p.? - - - r.? - -
ACADVL 00000391 NM_001033859.2 0000025352 ./. - c.3G>A - p.? - - - r.? - -
ACADVL 00000388 NM_001270447.1 0000025352 ./. - c.132-135G>A - p.(=) - - - r.(=) - -
ACADVL 00000389 NM_001270448.1 0000025352 ./. - c.-301G>A - p.(=) - - - r.(=) - -
DLG4 00003308 NM_001365.3 0000025352 ./. - c.-1138C>T - p.(=) - - - r.(=) - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000671153;
Chromosome 17:7123306..7123306
Allele frequencies from ExAC 0.00003
ClinVar Allele ID 548298
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.7123306G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. DLG4:1742|ACADVL:37
Molecular consequence SO:0001582|initiator codon variant, SO:0001583|missense variant, SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin unknown
dbSNP ID 768236474
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