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NM_004972.3:c.1849G>T
Home
NM_004972.3:c.1849G>T
HGVS Expressions
NG_009904.1:g.93526G>T
NM_004972.3:c.1849G>T
NP_004963.1:p.Val617Phe
NC_000009.12:g.5073770G>T
Associated Genes
Janus Kinase 2
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Clinvar Clinical Significance
Pathogenic, Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
77375493
Clinvar
14662
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
600880.1
Lebanon
1
NA
Pathogenic
Budd-Chiari Syndrome
Musallam et al, 2010
Patient later developed essential thromb...
614521.1.1
Lebanon
1
Pathogenic
Thrombocythemia 3
Nishihori et al. 2014
Patient also suffered from multiple myel...
147796.G.1
Lebanon
Pathogenic
Myelofibrosis
Mahfouz et al. 2011
Study with 229 Myeloproliferative Disord...
263300.G.1
Lebanon
Pathogenic
Polycythemia Vera
Mahfouz et al. 2011
Study with 229 adult patients with MPD. ...
614521.G.1
Lebanon
Pathogenic
Thrombocythemia 3
Mahfouz et al. 2011
Study with 229 Myeloproliferative Disord...
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Contributors
Sayeeda Hana: 30.07.2019
Edit History
Pratibha Nair: 22.11.2022
Pratibha Nair: 16.11.2022
Sami Bizzari: 18.03.2021
Asha Deepthi: 06.05.2020
Sayeeda Hana: 30.07.2019
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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