chr17:42337829:C>G Detail (hg38) (STAT3, LOC130060889)

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

Information

Genome

Assembly	Position
hg19	chr17:40,489,847-40,489,847 View the variant detail on this assembly version.
hg38	chr17:42,337,829-42,337,829

HGVS

STAT3

Type	Transcript	Protein
RefSeq	NM_003150.3:c.579G>C	NP_003141.2:p.Gln193His
	NM_139276.2:c.579G>C	NP_644805.1:p.Gln193His
	NM_213662.1:c.579G>C	NP_998827.1:p.Gln193His
Ensemble	ENST00000264657.10:c.579G>C	ENST00000264657.10:p.Gln193His
	ENST00000389272.7:c.285G>C	ENST00000389272.7:p.Gln95His
	ENST00000404395.3:c.579G>C	ENST00000404395.3:p.Gln193His
	ENST00000585517.5:c.579G>C	ENST00000585517.5:p.Gln193His
	ENST00000588969.5:c.579G>C	ENST00000588969.5:p.Gln193His
	ENST00000677002.1:c.579G>C	ENST00000677002.1:p.Gln193His
	ENST00000677030.1:c.579G>C	ENST00000677030.1:p.Gln193His
	ENST00000677152.1:c.579G>C	ENST00000677152.1:p.Gln193His
	ENST00000677421.1:c.579G>C	ENST00000677421.1:p.Gln193His
	ENST00000677442.1:c.579G>C	ENST00000677442.1:p.Gln193His
	ENST00000677479.1:c.579G>C	ENST00000677479.1:p.Gln193His
	ENST00000677603.1:c.579G>C	ENST00000677603.1:p.Gln193His
	ENST00000677723.1:c.579G>C	ENST00000677723.1:p.Gln193His
	ENST00000678043.1:c.579G>C	ENST00000678043.1:p.Gln193His
	ENST00000678044.1:c.579G>C	ENST00000678044.1:p.Gln193His
	ENST00000678048.1:c.579G>C	ENST00000678048.1:p.Gln193His
	ENST00000678535.1:c.579G>C	ENST00000678535.1:p.Gln193His
	ENST00000678572.1:c.579G>C	ENST00000678572.1:p.Gln193His
	ENST00000678674.1:c.483G>C	ENST00000678674.1:p.Gln161His
	ENST00000678792.1:c.579G>C	ENST00000678792.1:p.Gln193His
	ENST00000678827.1:c.579G>C	ENST00000678827.1:p.Gln193His
	ENST00000678905.1:c.579G>C	ENST00000678905.1:p.Gln193His
	ENST00000678906.1:c.579G>C	ENST00000678906.1:p.Gln193His
	ENST00000678913.1:c.579G>C	ENST00000678913.1:p.Gln193His
	ENST00000678960.1:c.579G>C	ENST00000678960.1:p.Gln193His
	ENST00000679014.1:c.579G>C	ENST00000679014.1:p.Gln193His
	ENST00000679166.1:c.579G>C	ENST00000679166.1:p.Gln193His
	ENST00000679185.1:c.579G>C	ENST00000679185.1:p.Gln193His
	ENST00000715205.1:c.579G>C	ENST00000715205.1:p.Gln193His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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Links

STAT3

Type	Database	ID	Link
Gene	MIM	102582	OMIM
	HGNC	11364	HGNC
	Ensembl	ENSG00000168610	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-03-08	criteria provided, single submitter	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_139276.3(STAT3):c.579G>C (p.Gln193His) AND multiple conditions	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: -
Genome: hg38
Position: chr17:42,337,829-42,337,829
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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