chr8:72184037:G>A Detail (hg19) (EYA1)

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

Genome

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

HGVS

EYA1

Type	Transcript	Protein
RefSeq	NM_000503.5:c.922C>T	NP_000494.2:p.Arg308Ter
	NM_001288574.1:c.922C>T	NP_001275503.1:p.Arg308Ter
	NM_001288575.1:c.922C>T	NP_001275504.1:p.Arg308Ter
	NM_172060.3:c.823C>T	NP_742057.1:p.Arg275Ter
	NM_172058.3:c.922C>T	NP_742055.1:p.Arg308Ter
	NM_172059.3:c.907C>T	NP_742056.1:p.Arg303Ter
Ensemble	ENST00000303824.11:c.904C>T	ENST00000303824.11:p.Arg302Ter
	ENST00000340726.8:c.922C>T	ENST00000340726.8:p.Arg308Ter
	ENST00000388740.4:c.823C>T	ENST00000388740.4:p.Arg275Ter
	ENST00000388741.7:c.820C>T	ENST00000388741.7:p.Arg274Ter
	ENST00000388742.8:c.922C>T	ENST00000388742.8:p.Arg308Ter
	ENST00000388743.6:c.919C>T	ENST00000388743.6:p.Arg307Ter
	ENST00000419131.6:c.907C>T	ENST00000419131.6:p.Arg303Ter
	ENST00000643681.1:c.1009C>T	ENST00000643681.1:p.Arg337Ter
	ENST00000644229.1:c.994C>T	ENST00000644229.1:p.Arg332Ter
	ENST00000644712.1:c.991C>T	ENST00000644712.1:p.Arg331Ter
	ENST00000645793.1:c.922C>T	ENST00000645793.1:p.Arg308Ter
	ENST00000647540.1:c.922C>T	ENST00000647540.1:p.Arg308Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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	COSM5013851	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000071 (TMGS000143)	Kenjiro Kosaki	Keio University Kobe Universtiy

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1997-02-01	no assertion criteria provided	branchiootorenal syndrome 1	germline	Detail
Pathogenic	2011-09-17	criteria provided, single submitter	Rare genetic deafness	germline	Detail
Pathogenic	2021-10-21	criteria provided, single submitter	Melnick-Fraser syndrome	germline	Detail
Pathogenic	2022-06-14	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-02-02	criteria provided, single submitter	EYA1-related disorder	germline	Detail

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
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) AND Branchiootorenal syndrome 1	ClinVar	Detail
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) AND Rare genetic deafness	ClinVar	Detail
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) AND Melnick-Fraser syndrome	ClinVar	Detail
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) AND not provided	ClinVar	Detail
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) AND EYA1-related disorder	ClinVar	Detail
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: -
dbSNP: rs121909195 dbSNP
Genome: hg19
Position: chr8:72,184,037-72,184,037
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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