View genomic variant #0000000030

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.53676584_53676585del
Published as -
GERP -
Segregation -
DB-ID CPT2_000003 See all 2 reported entries
MSCV MSCV_0000030
dbSNP ID rs397509431
Frequency -
Sources ; clinvar;
Reference 10090476;11477613;12410208
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

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Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
CPT2 00000665 NM_000098.2 0000000030 +/+ - - c.1238_1239del p.(Lys414Thrfs*7) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000202516; RCV000202553; RCV000576522; RCV000009520; RCV000078117; RCV000185837;
Chromosome 1:53676585..53676586
Allele frequencies from ExAC 0.00011
ClinVar Allele ID 98339
Disease database name and identifier MedGen:C0342790, Orphanet:ORPHA157, SNOMED CT:238002005|MedGen:C1833508, OMIM:255110, Orphanet:ORPHA228302|MedGen:C1833511, OMIM:600649, Orphanet:ORPHA228305|MedGen:CN517202
ClinVar preferred disease name 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.53676585 53676586delGA
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Variant clinical sources reported HGMD:CD991686|OMIM Allelic Variant:600650.0009
Gene symbol:Gene id. CPT2:1376
Molecular consequence SO:0001589|frameshift variant
Allele origin germline
dbSNP ID 397509431
For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN MedGen:C0342790, Orphanet:ORPHA157, SNOMED CT:238002005|MedGen:C1833508, OMIM:255110, Orphanet:ORPHA228302
For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. 60702:Pathogenic
Variant Flags
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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
CD99168615367658553676585HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available