chr1:65311203:C>A Detail (hg19) (JAK1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:65,311,203-65,311,203
hg38	chr1:64,845,520-64,845,520 View the variant detail on this assembly version.

HGVS

JAK1

Type	Transcript	Protein
RefSeq	NM_001320923.1:c.2108G>T	NP_001307852.1:p.Ser703Ile
	NM_001321852.1:c.2108G>T	NP_001308781.1:p.Ser703Ile
	NM_001321853.1:c.2108G>T	NP_001308782.1:p.Ser703Ile
	NM_001321854.1:c.2108G>T	NP_001308783.1:p.Ser703Ile
	NM_001321855.1:c.2108G>T	NP_001308784.1:p.Ser703Ile
	NM_001321856.1:c.2108G>T	NP_001308785.1:p.Ser703Ile
	NM_001321857.1:c.2108G>T	NP_001308786.1:p.Ser703Ile
	NM_002227.3:c.2108G>T	NP_002218.2:p.Ser703Ile
Ensemble	ENST00000672751.2:c.2108G>T	ENST00000672751.2:p.Ser703Ile
	ENST00000673046.1:c.2108G>T	ENST00000673046.1:p.Ser703Ile
	ENST00000673246.2:c.1979G>T	ENST00000673246.2:p.Ser660Ile
	ENST00000699312.1:c.2108G>T	ENST00000699312.1:p.Ser703Ile
	ENST00000671929.2:c.2108G>T	ENST00000671929.2:p.Ser703Ile
	ENST00000699259.1:c.2105G>T	ENST00000699259.1:p.Ser702Ile
	ENST00000673254.1:c.1976G>T	ENST00000673254.1:p.Ser659Ile
	ENST00000672574.2:c.2108G>T	ENST00000672574.2:p.Ser703Ile
	ENST00000672179.2:c.2108G>T	ENST00000672179.2:p.Ser703Ile
	ENST00000671954.2:c.2108G>T	ENST00000671954.2:p.Ser703Ile
	ENST00000699310.1:c.2102G>T	ENST00000699310.1:p.Ser701Ile
	ENST00000699262.1:c.2108G>T	ENST00000699262.1:p.Ser703Ile
	ENST00000699260.1:c.2105G>T	ENST00000699260.1:p.Ser702Ile
	ENST00000342505.5:c.2108G>T	ENST00000342505.5:p.Ser703Ile
	ENST00000672247.2:c.2108G>T	ENST00000672247.2:p.Ser703Ile
	ENST00000672434.2:c.2108G>T	ENST00000672434.2:p.Ser703Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

JAK1

Type	Database	ID	Link
Gene	MIM	147795	OMIM
	HGNC	6190	HGNC
	Ensembl	ENSG00000162434	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM305942	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2020-09-01	no assertion criteria provided	Autoinflammation, immune dysregulation, and eosinophilia	unknown	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
hepatocellular carcinoma	Ruxolitinib	D	Predictive	Supports	Sensitivity/Response	Somatic	4	26701727	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
A JAK1 S703I mutation was found to activate the JAK-STAT signaling pathway in vitro and in vivo in h...	CIViC Evidence	Detail
NM_002227.4(JAK1):c.2108G>T (p.Ser703Ile) AND Autoinflammation, immune dysregulation, and eosinophil...	ClinVar	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: rs1655173102 dbSNP
Genome: hg19
Position: chr1:65,311,203-65,311,203
Variant Type: snv
Reference Allele: C
Alternative Allele: A
Variant (CIViC) (CIViC Variant): S703I
Transcript 1 (CIViC Variant): ENST00000342505.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/822

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