View genomic variant #0000001809

Chromosome 1
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.53678936G>A
Published as -
GERP 5.900
Segregation -
DB-ID CPT2_000014
dbSNP ID rs186044004
Frequency -
Sources ; ensembl;
Reference -
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.1646G>A p.(Gly549Asp) probably_damaging(1) missense_variant,splice_region_variant - deleterious(0)


ClinVar @ MSeqDR

0.00002
0.0002
136315
MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005
Carnitine palmitoyltransferase II deficiency
HGVS variant names NC 000001.10:g.53678936G>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
UniProtKB (protein):P23786#VAR 007971
Gene symbol:Gene id. CPT2:1376
SO:0001583|missense variant
1
dbSNP ID 186044004
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
rs18604400415367893653678936G/AA0.0005Uniprot phenotype variantsCarnitine palmitoyltransferase 2 deficiency late-onset
CM99044115367893653678936HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available