chr8:71215613:C>G 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	chr8:72,127,848-72,127,848 View the variant detail on this assembly version.
hg38	chr8:71,215,613-71,215,613

HGVS

EYA1

Type	Transcript	Protein
RefSeq	NM_000503.5:c.1475+1G>C
	NM_001288574.1:c.1475+1G>C
	NM_001288575.1:c.1475+1G>C
	NM_172060.3:c.1376+1G>C
	NM_172058.3:c.1475+1G>C
	NM_172059.3:c.1370+1G>C
Ensemble	ENST00000303824.11:c.1457+1G>C
	ENST00000340726.8:c.1475+1G>C
	ENST00000388740.4:c.1376+1G>C
	ENST00000388741.7:c.1373+1G>C
	ENST00000388742.8:c.1475+1G>C
	ENST00000388743.6:c.1472+1G>C
	ENST00000419131.6:c.1370+1G>C
	ENST00000643681.1:c.1562+1G>C
	ENST00000644229.1:c.1457+1G>C
	ENST00000644712.1:c.1454+1G>C
	ENST00000645793.1:c.1475+1G>C
	ENST00000647540.1:c.1475+1G>C

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	2014-02-17	criteria provided, single submitter	Rare genetic deafness	germline	Detail
Pathogenic	2021-07-13	criteria provided, single submitter	Branchiootic syndrome 1,branchiootorenal syndrome 1,Otofaciocervical syndrome 1	unknown	Detail
Pathogenic	2021-07-13	criteria provided, single submitter	Branchiootic syndrome 1,branchiootorenal syndrome 1,Otofaciocervical syndrome 1	unknown	Detail
Pathogenic	2021-07-13	criteria provided, single submitter	Branchiootic syndrome 1,branchiootorenal syndrome 1,Otofaciocervical syndrome 1	unknown	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.1475+1G>C AND Rare genetic deafness	ClinVar	Detail
NM_000503.6(EYA1):c.1475+1G>C AND multiple conditions	ClinVar	Detail
NM_000503.6(EYA1):c.1475+1G>C AND multiple conditions	ClinVar	Detail
NM_000503.6(EYA1):c.1475+1G>C AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs727503042 dbSNP
Genome: hg38
Position: chr8:71,215,613-71,215,613
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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