View genomic variant #0000002630

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.7123340C>T
Published as -
GERP 4.880
Segregation -
DB-ID ACADVL_000039
MSCV MSCV_0002630
dbSNP ID rs63750670
Frequency -
Sources ; Ensembl;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
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 0000002630 ?/? - c.37C>T 1/19 p.? stop_gained,NMD_transcript_variant - - r.? - -
ACADVL 00000391 NM_001033859.2 0000002630 ?/? - c.37C>T 1/19 p.(Gln13*) stop_gained,NMD_transcript_variant - - r.(?) - -
ACADVL 00000388 NM_001270447.1 0000002630 ?/? - c.132-101C>T - p.(=) - - - r.(=) - -
ACADVL 00000389 NM_001270448.1 0000002630 ?/? - c.-267C>T - p.(=) - - - r.(=) - -
DLG4 00003308 NM_001365.3 0000002630 ?/? - c.-1172G>A - p.(=) - - - r.(=) - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV001003624; RCV002472377;
Chromosome 17:7123340..7123340
ClinVar Allele ID 801182
Disease database name and identifier MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793|Human Phenotype Ontology:HP:0003201, MedGen:C0035410|Human Phenotype Ontology:HP:0011021, MedGen:C4023591
ClinVar preferred disease name Very long chain acyl-CoA dehydrogenase deficiency|Rhabdomyolysis|Abnormality of circulating enzyme level
HGVS variant names NC 000017.10:g.7123340C>T
ClinVar review status reviewed by expert panel
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. DLG4:1742|ACADVL:37
Molecular consequence SO:0001587|nonsense, SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 63750670
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