Genomic variant #0000000023

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.53662764C>A
Published as -
GERP 4.690
Segregation -
DB-ID CPT2_000011
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
CPT2 NM_000098.2 +/+ - 1/5 c.149C>A p.(Pro50His) probably_damaging(0.99) missense_variant - deleterious(0)


ClinVar @ MSeqDR

0.00017
23993
MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005|MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302|MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305|MedGen:CN517202
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
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600650.0003|UniProtKB (protein):P23786#VAR 001391
Gene symbol:Gene id. CPT2:1376
SO:0001583|missense variant
1
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