Unique variants in the JAK2 gene

Information The variants shown are described using the transcript reference sequence.

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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 6 12 c.1849G>T V167F, V617F r.(?) p.(Val617Phe) Pahtogenic, Pathogenic, Pathogenic​ g.93526G>T - Rafidah Mahmud et al.(2020), Yee Yee Yap et al.(2018) JAK2_000001 rs77375493 13/644, 22/644, 253/644, 310/644, 32/644 - Nur Aisyah Athirah
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