Annotation Detail

Information

Associated Genes: JAK2 INSL6
Associated Variants: JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 )
Associated Disease: Primary familial polycythemia due to EPO receptor mutation
Source Database: ClinVar
Description: NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND Primary familial polycythemia due to EPO receptor mutation
ClinVar Allele ID: 29701
ClinVar RefSeq Alternation Syntax: NM_001322198.2:c.634G>T
ClinVar RefSeq Alternation Syntax: NM_001322199.2:c.634G>T
ClinVar RefSeq Alternation Syntax: NR_169763.1:n.2333G>T
ClinVar RefSeq Alternation Syntax: NM_001322195.2:c.1849G>T
ClinVar RefSeq Alternation Syntax: NR_169764.1:n.2250G>T
ClinVar RefSeq Alternation Syntax: NM_001322194.2:c.1849G>T
ClinVar RefSeq Alternation Syntax: NM_001322196.2:c.1849G>T
ClinVar RefSeq Alternation Syntax: NM_001322204.2:c.1402G>T
ClinVar RefSeq Alternation Syntax: NM_004972.4:c.1849G>T
Clinical Significance Description: Affects
Clinical Significance Last Update: 2014-08-07
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000022628
ClinVar Disease: Primary familial polycythemia due to EPO receptor mutation
Observed Origin Sample: somatic
Pubmed: 15858187
Pubmed: 18256599
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Pubmed: 25043017
Pubmed: 20703299
Pubmed: 25671252
Pubmed: 16603627
Pubmed: 15781101
Pubmed: 19036091
Pubmed: 16247455
Pubmed: 16762626
Pubmed: 15793561
Pubmed: 17989398
Pubmed: 19293426
Pubmed: 16707754

Drugs