chr8:71215470:A>C 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	chr8:72,127,705-72,127,705 View the variant detail on this assembly version.
hg38	chr8:71,215,470-71,215,470

HGVS

EYA1

Type	Transcript	Protein
RefSeq	NM_000503.5:c.1514T>G	NP_000494.2:p.Leu505Arg
	NM_001288574.1:c.1514T>G	NP_001275503.1:p.Leu505Arg
	NM_001288575.1:c.1514T>G	NP_001275504.1:p.Leu505Arg
	NM_172060.3:c.1415T>G	NP_742057.1:p.Leu472Arg
	NM_172058.3:c.1514T>G	NP_742055.1:p.Leu505Arg
	NM_172059.3:c.1409T>G	NP_742056.1:p.Leu470Arg
Ensemble	ENST00000303824.11:c.1496T>G	ENST00000303824.11:p.Leu499Arg
	ENST00000340726.8:c.1514T>G	ENST00000340726.8:p.Leu505Arg
	ENST00000388740.4:c.1415T>G	ENST00000388740.4:p.Leu472Arg
	ENST00000388741.7:c.1412T>G	ENST00000388741.7:p.Leu471Arg
	ENST00000388742.8:c.1514T>G	ENST00000388742.8:p.Leu505Arg
	ENST00000388743.6:c.1511T>G	ENST00000388743.6:p.Leu504Arg
	ENST00000419131.6:c.1409T>G	ENST00000419131.6:p.Leu470Arg
	ENST00000643681.1:c.1601T>G	ENST00000643681.1:p.Leu534Arg
	ENST00000644229.1:c.1496T>G	ENST00000644229.1:p.Leu499Arg
	ENST00000644712.1:c.1493T>G	ENST00000644712.1:p.Leu498Arg
	ENST00000645793.1:c.1514T>G	ENST00000645793.1:p.Leu505Arg
	ENST00000647540.1:c.1514T>G	ENST00000647540.1:p.Leu505Arg

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	1997-12-01	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.1514T>G (p.Leu505Arg) 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: rs121909201 dbSNP
Genome: hg38
Position: chr8:71,215,470-71,215,470
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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