chr10:90749256:G>T Detail (hg19) (ACTA2)

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

Genome

Assembly	Position
hg19	chr10:90,749,256-90,749,256
hg38	chr10:88,989,499-88,989,499 View the variant detail on this assembly version.

HGVS

ACTA2

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000415557.2:c.-24+1440C>A
	ENST00000458159.6:c.-24+1523C>A
	ENST00000713602.1:c.-182+1523C>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

ACTA2

Type	Database	ID	Link
Gene	MIM	102620	OMIM
	HGNC	130	HGNC
	Ensembl	ENSG00000107796	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	Squamous cell carcinoma of oropharynx	Thus, we determined the associations between four FAS and FASLG promoter variant...	BeFree	25976983	Detail
<0.001	Squamous cell carcinoma of oropharynx	Thus, we determined the associations between four FAS and FASLG promoter variant...	BeFree	25976983	Detail

Annotation

Annotations

Descrption	Source	Links
Thus, we determined the associations between four FAS and FASLG promoter variants (FAS1377G>A, rs...	DisGeNET	Detail
Thus, we determined the associations between four FAS and FASLG promoter variants (FAS1377G>A, rs...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2234767 dbSNP
Genome: hg19
Position: chr10:90,749,256-90,749,256
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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