View genomic variant #0000000035

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.53679181C>T
Published as -
GERP 5.900
Segregation -
DB-ID CPT2_000002
dbSNP ID rs74315293
Frequency -
Sources ; clinvar; ensembl;
Reference 1528846;8358442
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
CPT2 NM_000098.2 +/+ - 5/5 c.1891C>T p.(Arg631Cys) benign(0.284) missense_variant - deleterious(0.01)


ClinVar @ MSeqDR

0.00003
23991
MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005|MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302|MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305
Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced|Carnitine palmitoyltransferase II deficiency, infantile
HGVS variant names NC 000001.10:g.53679181C>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600650.0001,UniProtKB (protein):P23786#VAR 001399
Gene symbol:Gene id. CPT2:1376
SO:0001583|missense variant
1
dbSNP ID 74315293
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
rs7431529315367918153679181C/TOMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
rs7431529315367918153679181C/TOMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CM92021715367918153679181HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available