View genomic variant #0000001809

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.53678936G>A
Published as -
GERP 5.900
Segregation -
DB-ID CPT2_000014
MSCV MSCV_0001809
dbSNP ID rs186044004
Frequency -
Sources ; ensembl;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
CPT2 00000665 NM_000098.2 0000001809 +?/+? - 5/5 c.1646G>A p.(Gly549Asp) probably_damaging(1) missense_variant,splice_region_variant - deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000202475; RCV000591616;
Chromosome 1:53678936..53678936
Allele frequencies from ExAC 0.00002
Allele frequencies from TGP 0.0002
ClinVar Allele ID 136315
Disease database name and identifier MedGen:C0342790, Orphanet:ORPHA157, SNOMED CT:238002005|MedGen:CN169374
ClinVar preferred disease name Carnitine palmitoyltransferase II deficiency|not specified
HGVS variant names NC 000001.10:g.53678936G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported UniProtKB (protein):P23786#VAR 007971
Gene symbol:Gene id. CPT2:1376
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 186044004
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs18604400415367893653678936G/AA0.0005Uniprot phenotype variantsCarnitine palmitoyltransferase 2 deficiency late-onset
CM99044115367893653678936HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available