| Geno
|
Mag
|
Summary
|
| (G;G)
|
0
|
common in complete genomics
|
| (G;T)
|
4
|
JAK2-V617F variant present
|
| (T;T)
|
4
|
JAK2-V617F variant present
|
rs77375493, also known as V617F or Val617Phe, is a variant considered to generally be acquired (i.e. somatic) in the Janus kinase 2 JAK2 gene. The wild-type (normal) allele is rs77375493(G), and the (very rare) variant allele is rs77375493(T).
While the predictive medical consequences of having the variant in the absence of symptoms remain uncertain, this variant has been reported to be associated with several myeloproliferative disorders (basically, cancers of the blood), including polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis, and it appears to be act in a dominant manner. See: OMIM 147796.0001.
A participant in the PGP, John Lauerman, has published an article about his experiences upon finding out that he carried this variant.
FTDNA & MyHeritage name: VG09S32163
| ClinVar
|
| Risk
|
rs77375493(A;A) Rs77375493(T;T) |
| Alt
|
rs77375493(A;A) Rs77375493(T;T) |
| Reference
|
Rs77375493(G;G) |
| Significance |
Other |
| Disease |
Thrombocythemia 3 Polycythemia vera Myelofibrosis Acute myeloid leukemia Budd-Chiari syndrome Familial erythrocytosis Budd-Chiari syndrome Chronic myeloid leukemia Myeloproliferative disorder Subacute lymphoid leukemia |
| Variation | info |
|---|
| Gene |
JAK2 |
| CLNDBN |
Thrombocythemia 3 Polycythemia vera Myelofibrosis Acute myeloid leukemia Budd-Chiari syndrome, susceptibility to, somatic Familial erythrocytosis, 1 Budd-Chiari syndrome Chronic myeloid leukemia Myeloproliferative disorder Subacute lymphoid leukemia |
| Reversed |
0 |
| HGVS |
NC_000009.11:g.5073770G>A; NC_000009.11:g.5073770G>T |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000022629.26, RCV000015769.9, RCV000015770.9, RCV000015771.9, RCV000015772.68, RCV000022627.8, RCV000022628.9, RCV000279716.1, RCV000420273.1, RCV000427081.1, RCV000428162.1, |
