View genomic variant #0000025354

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.7123333del
Published as -
GERP -
Segregation -
DB-ID DLG4_000013
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 0000025354 ./. - c.30del - p.(Arg12Glyfs*4) - - - r.(?) - -
ACADVL 00000391 NM_001033859.2 0000025354 ./. - c.30del - p.(Arg12Glyfs*4) - - - r.(?) - -
ACADVL 00000388 NM_001270447.1 0000025354 ./. - c.132-108del - p.(=) - - - r.(=) - -
ACADVL 00000389 NM_001270448.1 0000025354 ./. - c.-274del - p.(=) - - - r.(=) - -
DLG4 00003308 NM_001365.3 0000025354 ./. - c.-1165del - p.(=) - - - r.(=) - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000673805;
Chromosome 17:7123333..7123333
ClinVar Allele ID 548236
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.7123336del
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. DLG4:1742|ACADVL:37
Molecular consequence SO:0001589|frameshift variant, SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin unknown
dbSNP ID 1555527464
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV001401665;
Chromosome 17:7123333..7123333
ClinVar Allele ID 1083503
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.7123333G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. DLG4:1742|ACADVL:37
Molecular consequence SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant, SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 2142959363
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