chr3:184091301:C>T Detail (hg19) (THPO)

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

Genome

Assembly	Position
hg19	chr3:184,091,301-184,091,301
hg38	chr3:184,373,513-184,373,513 View the variant detail on this assembly version.

HGVS

THPO

Type	Transcript	Protein
RefSeq	NM_001177597.2:c.298G>A	NP_001171068.1:p.Gly100Arg
	NM_001177598.2:c.298G>A	NP_001171069.1:p.Gly100Arg
	NM_001290022.1:c.298G>A	NP_001276951.1:p.Gly100Arg
	NM_001290026.1:c.298G>A	NP_001276955.1:p.Gly100Arg
Ensemble	ENST00000421442.2:c.298G>A	ENST00000421442.2:p.Gly100Arg
	ENST00000445696.6:c.298G>A	ENST00000445696.6:p.Gly100Arg
	ENST00000645603.2:c.718G>A	ENST00000645603.2:p.Gly240Arg
	ENST00000647395.1:c.298G>A	ENST00000647395.1:p.Gly100Arg
	ENST00000649095.1:c.718G>A	ENST00000649095.1:p.Gly240Arg
	ENST00000650229.1:c.298G>A	ENST00000650229.1:p.Gly100Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

THPO

Type	Database	ID	Link
Gene	MIM	600044	OMIM
	HGNC	11795	HGNC
	Ensembl	ENSG00000090534	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Graves Disease	Although there is not association between ICAM1 (G241R and K469E), VCAM1 (T-1591...	BeFree	23242661	Detail

Annotation

Annotations

Descrption	Source	Links
Although there is not association between ICAM1 (G241R and K469E), VCAM1 (T-1591C and T-833C), and E...	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: -
Genome: hg19
Position: chr3:184,091,301-184,091,301
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Allele Frequency (ExAC): 0.0
East Asian Chromosome Counts (ExAC): 8646
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
Chromosome Counts in All Race (ExAC): 121110
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.4770869457517957E-5

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