Variant #0000002535 (NC_000002.12:g.1496127C>T, NM_000547.5:c.2145C>T (TPO))

Individual ID 00000549
Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.1496127C>T
Published as -
Reference Ching Chin Lee et al.(2013)
DB-ID TPO_000008
dbSNP ID rs732608
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 2021-03-29 14:28:36 +08:00 (CST)
Date last edited 2021-08-01 13:34:37 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
TPO NM_000547.5 +?/. 8 c.2145C>T - r.(=) p.(=) Benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000600 DNA PCR TPO 6 Nur Aisyah Athirah