View genomic variant #0000000031

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.53676688T>C
Published as -
GERP 5.780
Segregation -
DB-ID CPT2_000004 See all 2 reported entries
MSCV MSCV_0000031
dbSNP ID rs74315297
Frequency -
Sources ; clinvar; ensembl;
Reference 12410208;10090476;11477613
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 0000000031 +/+ - 4/5 c.1342T>C p.(Phe448Leu) - missense_variant - -
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ClinVar @ MSeqDR

RCVaccession RCV000202478; RCV000202553; RCV000009520; RCV000178040; RCV000430397;
Chromosome 1:53676688..53676688
Allele frequencies from ExAC 0.00011
ClinVar Allele ID 23999
Disease database name and identifier MedGen:C0342790, Orphanet:ORPHA157, SNOMED CT:238002005|MedGen:CN169374|MedGen:CN517202
ClinVar preferred disease name Carnitine palmitoyltransferase II deficiency|not specified|not provided
HGVS variant names NC 000001.10:g.53676688T>C
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity, other
Conflicting clinical significance Benign(1), Pathogenic(1), Uncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:600650.0009|UniProtKB (protein):P23786#VAR 007968
Gene symbol:Gene id. CPT2:1376
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 74315297
For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN MedGen:C0342790, Orphanet:ORPHA157, SNOMED CT:238002005|MedGen:C1833508, OMIM:255110, Orphanet:ORPHA228302
For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. 60702:Pathogenic
Variant Flags
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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
rs7431529715367668853676688T/COMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
rs7431529715367668853676688T/COMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
rs7431529715367668853676688T/COMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CM99043815367668853676688HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available