View genomic variant #0000025346

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.7121059_7121060insAGAAGC
Published as -
GERP -
Segregation -
DB-ID DLG4_000014
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 0000025346 ./. - c.-2245_-2244insAGAAGC - p.(=) - - - r.(=) - -
ACADVL 00000391 NM_001033859.2 0000025346 ./. - c.-2245_-2244insAGAAGC - p.(=) - - - r.(=) - -
ACADVL 00000388 NM_001270447.1 0000025346 ./. - c.53_54insAGAAGC - p.(Glu21_Ala22dup) - - - r.(?) - -
ACADVL 00000389 NM_001270448.1 0000025346 ./. - c.-2548_-2547insAGAAGC - p.(=) - - - r.(=) - -
DLG4 00003308 NM_001365.3 0000025346 ./. - c.159+500_159+501insGCTTCT - p.(=) - - - r.(=) - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000157090; RCV000666003; RCV003422050;
Chromosome 17:7121058..7121058
ClinVar Allele ID 178720
Disease database name and identifier MONDO:MONDO:0024573, MeSH:D024741, MedGen:C0949658, OMIM:PS192600, Orphanet:155|MedGen:C3661900|MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
ClinVar preferred disease name Primary familial hypertrophic cardiomyopathy|not provided|Very long chain acyl-CoA dehydrogenase deficiency
HGVS variant names NC 000017.10:g.7121058A>G
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA346141
Gene symbol:Gene id. DLG4:1742|ACADVL:37
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 730880036
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000665391;
Chromosome 17:7121059..7121060
ClinVar Allele ID 548226
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.7121061GAAGCA[3]
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type Microsatellite
Sequence Ontology for variant type SO:0000289
Gene symbol:Gene id. DLG4:1742|ACADVL:37
Molecular consequence SO:0001627|intron variant, SO:0001821|inframe insertion
Allele origin unknown
dbSNP ID 1555526655
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