View genomic variant #0000000033

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.53678947G>A
Published as -
GERP 5.900
Segregation -
DB-ID CPT2_000006
dbSNP ID rs28936376
Frequency -
Sources ; clinvar; ensembl;
Reference 7711730
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.1657G>A p.(Asp553Asn) probably_damaging(0.978) missense_variant - tolerated(0.05)


ClinVar @ MSeqDR

0.00002
23994
MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
HGVS variant names NC 000001.10:g.53678947G>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600650.0004,UniProtKB (protein):P23786#VAR 001397
Gene symbol:Gene id. CPT2:1376
SO:0001583|missense variant
1
dbSNP ID 28936376
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
rs2893637615367894753678947G/AOMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
rs2893637615367894753678947G/AOMIM phenotype variantsCarnitine palmitoyltransferase 2 deficiency late-onset
CM95032615367894753678947HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available