View genomic variant #0000000029

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.53676494T>A
Published as -
GERP 4.690
Segregation -
DB-ID CPT2_000007
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

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


ClinVar @ MSeqDR

0.0001
0.00003
23997
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
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.53676494T>A
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600650.0007,UniProtKB (protein):P23786#VAR 001396
Gene symbol:Gene id. CPT2:1376
SO:0001583|missense variant
1
dbSNP ID 74315295
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
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