Genomic variant #0000000031

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.53676688T>C
Published as -
GERP 5.780
Segregation -
DB-ID CPT2_000004
dbSNP ID rs74315297
Frequency -
Sources ; clinvar; ensembl;
Reference 12410208;10090476;11477613
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 +/+ - 4/5 c.1342T>C p.(Phe448Leu) - missense_variant - -


ClinVar @ MSeqDR

0.00011
23999
MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005|MedGen:CN169374|MedGen:CN517202
Carnitine palmitoyltransferase II deficiency|not specified|not provided
HGVS variant names NC 000001.10:g.53676688T>C
criteria provided, conflicting interpretations
Clinical Significance
Benign(1),Pathogenic(1),Uncertain significance(1)
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600650.0009|UniProtKB (protein):P23786#VAR 007968
Gene symbol:Gene id. CPT2:1376
SO:0001583|missense variant
1
dbSNP ID 74315297
MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005|MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302
Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
60702:Pathogenic
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
rs7431529715367668853676688T/COMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
rs7431529715367668853676688T/COMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
rs7431529715367668853676688T/COMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CM99043815367668853676688HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available