View genomic variant #0000000030

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.53676584_53676585del
Published as -
GERP -
Segregation -
DB-ID CPT2_000003
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
CPT2 NM_000098.2 +/+ - - c.1238_1239del p.(Lys414Thrfs*7) - - - -


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