View genomic variant #0000000023

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.53662764C>A
Published as -
GERP 4.690
Segregation -
DB-ID CPT2_000011 See all 2 reported entries
MSCV MSCV_0000023
dbSNP ID rs28936375
Frequency -
Sources ; clinvar; ensembl;
Reference 12410208;7711730
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 0000000023 +/+ - 1/5 c.149C>A p.(Pro50His) probably_damaging(0.99) missense_variant - deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000202440; RCV000009512; RCV000009511; RCV000440440;
Chromosome 1:53662764..53662764
Allele frequencies from ExAC 0.00017
ClinVar Allele ID 23993
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:CN517202
ClinVar preferred disease name Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced|Carnitine palmitoyltransferase II deficiency, infantile|not provided
HGVS variant names NC 000001.10:g.53662764C>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:600650.0003|UniProtKB (protein):P23786#VAR 001391
Gene symbol:Gene id. CPT2:1376
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 28936375
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
rs2893637515366276453662764C/AOMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
rs2893637515366276453662764C/AOMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CM95032515366276453662764HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available