View genomic variant #0000000028

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.53676026C>T
Published as -
GERP 5.500
Segregation -
DB-ID CPT2_000010 See all 2 reported entries
MSCV MSCV_0000028
dbSNP ID rs74315298
Frequency -
Sources ; clinvar; ensembl;
Reference 18550408
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00023 View details
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     

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Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
CPT2 00000665 NM_000098.2 0000000028 +/+ - 4/5 c.680C>T p.(Pro227Leu) - missense_variant - -
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ClinVar @ MSeqDR

RCVaccession RCV000202466; RCV000576348; RCV000009526; RCV000185840; RCV000328608;
Chromosome 1:53676026..53676026
Allele frequencies from ESP 0.0002
Allele frequencies from ExAC 0.00009
Allele frequencies from TGP 0.0002
ClinVar Allele ID 24003
Disease database name and identifier MedGen:C0342790, Orphanet:ORPHA157, SNOMED CT:238002005|MedGen:C1833511, OMIM:600649, Orphanet:ORPHA228305|MedGen:C1833518, OMIM:608836, Orphanet:ORPHA228308|MedGen:CN169374|MedGen:CN517202
ClinVar preferred disease name Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyltransferase II deficiency, infantile|Carnitine palmitoyltransferase II deficiency, lethal neonatal|not specified|not provided
HGVS variant names NC 000001.10:g.53676026C>T
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Likely pathogenic(2), Pathogenic(3), Uncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:600650.0013|UniProtKB (protein):P23786#VAR 007967
Gene symbol:Gene id. CPT2:1376
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 74315298
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
rs7431529815367602653676026C/TOMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CM99043715367602653676026HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available