Variant #0000002832 (NC_000022.11:g.7387C>T, TYMP(NM_001113755.3):c.535C>T)

Individual ID 00000667
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.7387C>T
Published as -
Reference F L Yong et al.(2015)
DB-ID TYMP_000001 See all 5 reported entries
dbSNP ID rs886039303
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
TYMP NM_001113755.3 +/. 5 c.535C>T - r.(?) p.(Gln179*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000734 DNA;RNA RT-PCR;SEQ TYMP 3 Nur Aisyah Athirah