chr5:167913476:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr5:167,913,476-167,946,306
hg38 chr5:168,486,471-168,519,301 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 IgA glomerulonephritis NA CTD_human Detail
<0.001 leukemia NA BeFree Detail
<0.001 chronic lymphocytic leukemia NA BeFree Detail
<0.001 Leukemia, Myelocytic, Acute NA BeFree Detail
0.002 Leukemia, Myelomonocytic, Chronic NA BeFree Detail
<0.001 Monosomy NA BeFree Detail
<0.001 myelofibrosis NA BeFree Detail
<0.001 Myeloproliferative disease NA BeFree Detail
<0.001 pituitary adenoma NA BeFree Detail
<0.001 Thrombocythemia, Essential NA BeFree Detail
<0.001 Congenital pontocerebellar hypoplasia NA BeFree Detail
<0.001 Secondary acquired sideroblastic anemia NA BeFree Detail
<0.001 secondary acute myeloid leukemia NA BeFree Detail
<0.001 juvenile myelomonocytic leukemia According to the 2008 WHO classification, the category of myelodysplastic/myelop... BeFree 25212680 Detail
<0.001 Thrombocythemia, Essential Recently, it has become clear that patients meeting WHO criteria for RARS-T have... BeFree 19120370 Detail
<0.001 Thrombocythemia, Essential The prevalence of homozygous JAK2-V617F mutation in RARS-T suggests that this en... BeFree 18166783 Detail
0.002 Refractory anemia with ringed sideroblasts Refractory anemia with ringed sideroblasts and marked thrombocytosis (RARS-T) wa... BeFree 18166783 Detail
<0.001 5q-syndrome NA BeFree Detail
<0.001 thrombocytosis NA BeFree Detail
<0.001 Pontoneocerebellar hypoplasia NA BeFree Detail
0.002 Refractory anemia with ringed sideroblasts NA BeFree Detail
<0.001 Myelodysplastic Syndrome with Isolated del(5q) NA BeFree Detail
<0.001 Myelodysplastic-Myeloproliferative Diseases According to the 2008 WHO classification, the category of myelodysplastic/myelop... BeFree 25212680 Detail
<0.001 Refractory anemia with excess blasts II NA BeFree Detail
<0.001 Chromosome 5, trisomy 5q NA BeFree Detail
<0.001 pontocerebellar hypoplasia type 6 NA BeFree Detail
0.002 Refractory anemia, without ringed sideroblasts, without excess blasts NA BeFree Detail
0.240 LEUKODYSTROPHY, HYPOMYELINATING, 9 NA ORPHANET,UNIPROT Detail
<0.001 Primary myelofibrosis NA BeFree Detail
<0.001 anemia NA BeFree Detail
<0.001 aplastic anemia NA BeFree Detail
0.002 Refractory anemias NA BeFree Detail
0.004 Refractory anaemia with excess blasts NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
According to the 2008 WHO classification, the category of myelodysplastic/myeloproliferative neoplas... DisGeNET Detail
Recently, it has become clear that patients meeting WHO criteria for RARS-T have clonal JAK2(V617F) ... DisGeNET Detail
The prevalence of homozygous JAK2-V617F mutation in RARS-T suggests that this entity is biologically... DisGeNET Detail
Refractory anemia with ringed sideroblasts and marked thrombocytosis (RARS-T) was recently shown to ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
According to the 2008 WHO classification, the category of myelodysplastic/myeloproliferative neoplas... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386626619 dbSNP
Genome
hg19
Position
chr5:167,913,476-167,946,306
Variant Type
snv
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