Variant #0000405751 (NC_000011.9:g.68552431G>A, NM_001876.3:c.1015C>T (CPT1A))

Individual ID 00181015
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.68552431G>A
DNA change (hg38) g.68784963G>A
Published as Arg339Ter
ISCN -
DB-ID CPT1A_000009 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Belen Perez
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Belen Perez
Date created 2018-09-20 17:59:54 +02:00 (CEST)
Date last edited 2018-10-12 10:16:58 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CPT1A NM_001876.3 +/. - c.1015C>T r.(?) p.(Arg339*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181963 DNA SEQ-NG-I - - CPT1A 1 Belen Perez


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