View genomic variant #0000000024

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.53668099C>T
Published as -
GERP 5.880
Segregation -
DB-ID CPT2_000012
dbSNP ID rs74315294
Frequency -
Sources ; clinvar; ensembl;
Reference 10398215;8786066;8358442;8651281;23757202;736528
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00138 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 +/+ - 3/5 c.338C>T p.(Ser113Leu) probably_damaging(0.98) missense_variant,splice_region_variant - deleterious(0)


ClinVar @ MSeqDR

0.0014
0.00127
0.0006
23992
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|MedGen:C3280160,OMIM:614212,Orphanet:ORPHA263524|MedGen:CN517202
Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced|Carnitine palmitoyltransferase II deficiency, infantile|not provided|Encephalopathy, acute, infection-induced, 4, susceptibility to|not provided
HGVS variant names NC 000001.10:g.53668099C>T
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
HGMD:CM930171,Illumina Clinical Services Laboratory,Illumina:84620,OMIM Allelic Variant:600650.0002,UniProtKB (protein):P23786#VAR 001392
Gene symbol:Gene id. CPT2:1376
SO:0001583|missense variant
1
dbSNP ID 74315294
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
rs7431529415366809953668099C/TT0.0009OMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
rs7431529415366809953668099C/TT0.0009OMIM phenotype variantsCarnitine palmitoyltransferase 2 deficiency late-onset
CM93017115366809953668099HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available