chr8:72123391:CTTT> 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	chr8:72,123,391-72,123,394
hg38	chr8:71,211,156-71,211,159

HGVS

EYA1

Type	Transcript	Protein
RefSeq	NM_000503.5:c.1695_1698delAAAG	NP_000494.2:p.Lys565AsnfsTer73
	NM_001288574.1:c.1695_1698delAAAG	NP_001275503.1:p.Lys565AsnfsTer73
	NM_001288575.1:c.1695_1698delAAAG	NP_001275504.1:p.Lys565AsnfsTer73
	NM_172060.3:c.1596_1599delAAAG	NP_742057.1:p.Lys532AsnfsTer73
	NM_172058.3:c.1695_1698delAAAG	NP_742055.1:p.Lys565AsnfsTer73
	NM_172059.3:c.1590_1593delAAAG	NP_742056.1:p.Lys530AsnfsTer73
Ensemble	ENST00000303824.11:c.1677_1680delAAAG	ENST00000303824.11:p.Lys559AsnfsTer73
	ENST00000340726.8:c.1695_1698delAAAG	ENST00000340726.8:p.Lys565AsnfsTer73
	ENST00000388740.4:c.1596_1599delAAAG	ENST00000388740.4:p.Lys532AsnfsTer73
	ENST00000388741.7:c.1593_1596delAAAG	ENST00000388741.7:p.Lys531AsnfsTer73
	ENST00000388742.8:c.1695_1698delAAAG	ENST00000388742.8:p.Lys565AsnfsTer73
	ENST00000388743.6:c.1692_1695delAAAG	ENST00000388743.6:p.Lys564AsnfsTer73
	ENST00000419131.6:c.1590_1593delAAAG	ENST00000419131.6:p.Lys530AsnfsTer73
	ENST00000643681.1:c.1782_1785delAAAG	ENST00000643681.1:p.Lys594AsnfsTer73
	ENST00000644229.1:c.1677_1680delAAAG	ENST00000644229.1:p.Lys559AsnfsTer73
	ENST00000644712.1:c.1674_1677delAAAG	ENST00000644712.1:p.Lys558AsnfsTer73
	ENST00000645793.1:c.1695_1698delAAAG	ENST00000645793.1:p.Lys565AsnfsTer73
	ENST00000647540.1:c.1695_1698delAAAG	ENST00000647540.1:p.Lys565AsnfsTer73

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	1998-01-01	no assertion criteria provided	branchiootorenal syndrome 1	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.1695_1698del (p.Lys565fs) AND Branchiootorenal syndrome 1	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: rs606231355 dbSNP
Genome: hg19
Position: chr8:72,123,391-72,123,394
Variant Type: snv
Reference Allele: CTTT
Alternative Allele: -

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