View genomic variant #0000000029

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.53676494T>A
Published as -
GERP 4.690
Segregation -
DB-ID CPT2_000007 See all 2 reported entries
MSCV MSCV_0000029
dbSNP ID rs74315295
Frequency -
Sources ; clinvar; ensembl;
Reference 17709715;8682496
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 8.0E-5 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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DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
CPT2 00000665 NM_000098.2 0000000029 +/+ - 4/5 c.1148T>A p.(Phe383Tyr) - missense_variant - -
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ClinVar @ MSeqDR

RCVaccession RCV000202462; RCV000009517; RCV000411002; RCV000009518;
Chromosome 1:53676494..53676494
Allele frequencies from ESP 0.0001
Allele frequencies from ExAC 0.00003
ClinVar Allele ID 23997
Disease database name and identifier MedGen:C0342790, Orphanet:ORPHA157, SNOMED CT:238002005|MedGen:C1833508, OMIM:255110, Orphanet:ORPHA228302|MedGen:C1833511, OMIM:600649, Orphanet:ORPHA228305|MedGen:C1833518, OMIM:608836, Orphanet:ORPHA228308
ClinVar preferred disease name Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced|Carnitine palmitoyltransferase II deficiency, infantile|Carnitine palmitoyltransferase II deficiency, lethal neonatal
HGVS variant names NC 000001.10:g.53676494T>A
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:600650.0007|UniProtKB (protein):P23786#VAR 001396
Gene symbol:Gene id. CPT2:1376
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 74315295
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
rs7431529515367649453676494T/AOMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
rs7431529515367649453676494T/AOMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CM96042215367649453676494HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available