chr8:71271802:G>C Detail (hg38) (EYA1)

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

Information

Genome

Assembly	Position
hg19	chr8:72,184,037-72,184,037 View the variant detail on this assembly version.
hg38	chr8:71,271,802-71,271,802

HGVS

EYA1

Type	Transcript	Protein
RefSeq	NM_000503.5:c.922C>G	NP_000494.2:p.Arg308Gly
	NM_001288574.1:c.922C>G	NP_001275503.1:p.Arg308Gly
	NM_001288575.1:c.922C>G	NP_001275504.1:p.Arg308Gly
	NM_172060.3:c.823C>G	NP_742057.1:p.Arg275Gly
	NM_172058.3:c.922C>G	NP_742055.1:p.Arg308Gly
	NM_172059.3:c.907C>G	NP_742056.1:p.Arg303Gly
Ensemble	ENST00000303824.11:c.904C>G	ENST00000303824.11:p.Arg302Gly
	ENST00000340726.8:c.922C>G	ENST00000340726.8:p.Arg308Gly
	ENST00000388740.4:c.823C>G	ENST00000388740.4:p.Arg275Gly
	ENST00000388741.7:c.820C>G	ENST00000388741.7:p.Arg274Gly
	ENST00000388742.8:c.922C>G	ENST00000388742.8:p.Arg308Gly
	ENST00000388743.6:c.919C>G	ENST00000388743.6:p.Arg307Gly
	ENST00000419131.6:c.907C>G	ENST00000419131.6:p.Arg303Gly
	ENST00000643681.1:c.1009C>G	ENST00000643681.1:p.Arg337Gly
	ENST00000644229.1:c.994C>G	ENST00000644229.1:p.Arg332Gly
	ENST00000644712.1:c.991C>G	ENST00000644712.1:p.Arg331Gly
	ENST00000645793.1:c.922C>G	ENST00000645793.1:p.Arg308Gly
	ENST00000647540.1:c.922C>G	ENST00000647540.1:p.Arg308Gly

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

EYA1

Type	Database	ID	Link
Gene	MIM	601653	OMIM
	HGNC	3519	HGNC
	Ensembl	ENSG00000104313	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
0.584	Branchio-Oto-Renal Syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	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: hg38
Position: chr8:71,271,802-71,271,802
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1555350127108852E-4
Chromosome Counts in All Race (ExAC): 121408
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.236689509752241E-6

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