Variant #0000002532 (NC_000002.12:g.1484759T>G, NM_000547.5:c.1502T>G (TPO))

Individual ID 00000549
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.1484759T>G
Published as -
Reference Ching Chin Lee et al.(2013)
DB-ID TPO_000005
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 2021-03-29 14:21:31 +08:00 (CST)
Date last edited 2021-08-01 13:34:37 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
TPO NM_000547.5 +?/. - c.1502T>G - r.(?) p.(Val501Gly) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000600 DNA PCR TPO 6 Nur Aisyah Athirah