JAK2 p.Asn463Thr (p.N463T) Detail (hg38) (JAK2)

Information

Genome

Assembly Position
hg19 chr9:5,069,083-5,069,083 View the variant detail on this assembly version.
hg38 chr9:5,069,083-5,069,083

HGVS

Type Transcript Protein
RefSeq NM_001322194.1:c.1388A>C NP_001309123.1:p.Asn463Thr
NM_001322195.1:c.1388A>C NP_001309124.1:p.Asn463Thr
NM_001322196.1:c.1388A>C NP_001309125.1:p.Asn463Thr
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 147796 OMIM
HGNC 6192 HGNC
Ensembl ENSG00000096968 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

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
-
Genome
hg38
Position
chr9:5,069,083-5,069,083
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Genome browser