Genomic variant #0000000028

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.53676026C>T
Published as -
GERP 5.500
Segregation -
DB-ID CPT2_000010
dbSNP ID rs74315298
Frequency -
Sources ; clinvar; ensembl;
Reference 18550408
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00023 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.680C>T p.(Pro227Leu) - missense_variant - -


ClinVar @ MSeqDR

0.0002
0.00009
0.0002
24003
MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005|MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305|MedGen:C1833518,OMIM:608836,Orphanet:ORPHA228308|MedGen:CN169374|MedGen:CN517202
Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyltransferase II deficiency, infantile|Carnitine palmitoyltransferase II deficiency, lethal neonatal|not specified|not provided
HGVS variant names NC 000001.10:g.53676026C>T
criteria provided, conflicting interpretations
Clinical Significance
Likely pathogenic(2),Pathogenic(3),Uncertain significance(1)
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600650.0013|UniProtKB (protein):P23786#VAR 007967
Gene symbol:Gene id. CPT2:1376
SO:0001583|missense variant
1
dbSNP ID 74315298
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
rs7431529815367602653676026C/TOMIM phenotype variantsCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CM99043715367602653676026HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available