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

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
Options




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