Variant #0000002611 (NC_000005.10:g.5514A>G, NC_000005.10(NM_004291.4):c.160-204A>G (CARTPT))

Individual ID 00000583
Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5514A>G
Published as -
Reference Yeo Lisa et al.(2012)
DB-ID CARTPT_000001
dbSNP ID -
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-04-18 14:21:44 +08:00 (CST)
Date last edited 2021-08-01 14:10:07 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
CARTPT NM_004291.4 -/. - c.160-204A>G - r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000644 DNA PCR;SEQ CARTPT 1 Nur Aisyah Athirah