Variant #0000002425 (NC_000002.12:g.1477452C>T, NM_000547.5:c.1186C>T (TPO))

Individual ID 00000527
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.1477452C>T
Published as -
Reference Ching Chin Lee et al.(2015)
DB-ID TPO_000003
dbSNP ID rs758368355
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 2021-03-18 12:10:44 +08:00 (CST)
Date last edited 2021-03-29 09:17:35 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
- - ?/. - c.1186C>T - r.(?) p.(Arg396Cys) -
- - ?/. - c.1186C>T - r.(?) p.(Arg396Cys) -
- - ?/. - c.820-7144C>T - r.(=) p.(=) -
- - +/. 8 c.1186C>T - r.(?) p.(Arg396Cys) -
- - ?/. - c.1186C>T - r.(?) p.(Arg396Cys) -
TPO NM_000547.5 ?/. - c.1186C>T - r.(?) p.(Arg396Cys) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000575 DNA PCR;SEQ TPO 4 Nur Aisyah Athirah