Variant #0000001405 (NC_000019.10:g.10362257A>G, NC_000019.10(NM_003331.4):c.1669+7T>C (TYK2))

Individual ID 00000294
Chromosome 19
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.10362257A>G
Published as -
Reference L H Lian et al. (2013), dbSNP, ClinVar
DB-ID TYK2_000001 See all 2 reported entries
dbSNP ID rs280519
Frequency 41/80
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-22 15:11:46 +08:00 (CST)
Date last edited 2021-08-29 14:29:04 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
TYK2 NM_003331.4 -/. - c.1669+7T>C - r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000309 DNA PCR TYK2 3 Nuur Athirah Binti Mohd Daud