chr8:71244662:G>A Detail (hg38) (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	chr8:72,156,897-72,156,897 View the variant detail on this assembly version.
hg38	chr8:71,244,662-71,244,662

HGVS

EYA1

Type	Transcript	Protein
RefSeq	NM_000503.5:c.1081C>T	NP_000494.2:p.Arg361Ter
	NM_001288574.1:c.1081C>T	NP_001275503.1:p.Arg361Ter
	NM_001288575.1:c.1081C>T	NP_001275504.1:p.Arg361Ter
	NM_172060.3:c.982C>T	NP_742057.1:p.Arg328Ter
	NM_172058.3:c.1081C>T	NP_742055.1:p.Arg361Ter
	NM_172059.3:c.1035+25078C>T
Ensemble	ENST00000303824.11:c.1063C>T	ENST00000303824.11:p.Arg355Ter
	ENST00000340726.8:c.1081C>T	ENST00000340726.8:p.Arg361Ter
	ENST00000388740.4:c.982C>T	ENST00000388740.4:p.Arg328Ter
	ENST00000388741.7:c.979C>T	ENST00000388741.7:p.Arg327Ter
	ENST00000388742.8:c.1081C>T	ENST00000388742.8:p.Arg361Ter
	ENST00000388743.6:c.1078C>T	ENST00000388743.6:p.Arg360Ter
	ENST00000419131.6:c.1035+25078C>T
	ENST00000643681.1:c.1168C>T	ENST00000643681.1:p.Arg390Ter
	ENST00000644229.1:c.1122+25078C>T
	ENST00000644712.1:c.1119+25078C>T
	ENST00000645793.1:c.1081C>T	ENST00000645793.1:p.Arg361Ter
	ENST00000647540.1:c.1081C>T	ENST00000647540.1:p.Arg361Ter

Summary

MGeND

Clinical significance
Variant entry
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2008-03-01	no assertion criteria provided	Branchiootic syndrome 1	germline	Detail
Pathogenic	2022-01-05	criteria provided, single submitter	branchiootorenal syndrome 1	germline	Detail
Pathogenic	2022-09-21	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-08-22	criteria provided, single submitter	Melnick-Fraser syndrome	germline	Detail
Pathogenic	2021-04-28	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2024-03-05	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
0.240	Branchiootic syndrome 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) AND Branchiootic syndrome 1	ClinVar	Detail
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) AND Branchiootorenal syndrome 1	ClinVar	Detail
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) AND not provided	ClinVar	Detail
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) AND Melnick-Fraser syndrome	ClinVar	Detail
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) AND Inborn genetic diseases	ClinVar	Detail
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) AND EYA1-related disorder	ClinVar	Detail
NA	DisGeNET	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: rs121909202 dbSNP
Genome: hg38
Position: chr8:71,244,662-71,244,662
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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