chr8:72111606:A>G 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	chr8:72,111,606-72,111,606
hg38	chr8:71,199,371-71,199,371 View the variant detail on this assembly version.

HGVS

EYA1

Type	Transcript	Protein
RefSeq	NM_000503.5:c.1748T>C	NP_000494.2:p.Leu583Pro
	NM_001288574.1:c.1748T>C	NP_001275503.1:p.Leu583Pro
	NM_001288575.1:c.1748T>C	NP_001275504.1:p.Leu583Pro
	NM_172060.3:c.1649T>C	NP_742057.1:p.Leu550Pro
	NM_172058.3:c.1748T>C	NP_742055.1:p.Leu583Pro
	NM_172059.3:c.1643T>C	NP_742056.1:p.Leu548Pro
Ensemble	ENST00000303824.11:c.1730T>C	ENST00000303824.11:p.Leu577Pro
	ENST00000340726.8:c.1748T>C	ENST00000340726.8:p.Leu583Pro
	ENST00000388740.4:c.1649T>C	ENST00000388740.4:p.Leu550Pro
	ENST00000388741.7:c.1646T>C	ENST00000388741.7:p.Leu549Pro
	ENST00000388742.8:c.1748T>C	ENST00000388742.8:p.Leu583Pro
	ENST00000388743.6:c.1745T>C	ENST00000388743.6:p.Leu582Pro
	ENST00000419131.6:c.1643T>C	ENST00000419131.6:p.Leu548Pro
	ENST00000643681.1:c.1835T>C	ENST00000643681.1:p.Leu612Pro
	ENST00000644229.1:c.1730T>C	ENST00000644229.1:p.Leu577Pro
	ENST00000644712.1:c.1727T>C	ENST00000644712.1:p.Leu576Pro
	ENST00000645793.1:c.1748T>C	ENST00000645793.1:p.Leu583Pro
	ENST00000647540.1:c.1748T>C	ENST00000647540.1:p.Leu583Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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
Likely pathogenic	2012-12-28	criteria provided, single submitter	Rare genetic deafness	germline	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	branchiootorenal syndrome 1,Branchiootic syndrome 1,Otofaciocervical syndrome 1	unknown	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	branchiootorenal syndrome 1,Branchiootic syndrome 1,Otofaciocervical syndrome 1	unknown	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	branchiootorenal syndrome 1,Branchiootic syndrome 1,Otofaciocervical syndrome 1	unknown	Detail
Likely pathogenic	2020-05-03	no assertion criteria provided		germline	Detail
Likely pathogenic	2022-04-15	criteria provided, single submitter	not provided	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.1748T>C (p.Leu583Pro) AND Rare genetic deafness	ClinVar	Detail
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) AND multiple conditions	ClinVar	Detail
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) AND multiple conditions	ClinVar	Detail
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) AND multiple conditions	ClinVar	Detail
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) AND Focal segmental glomerulosclerosis	ClinVar	Detail
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) AND not provided	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: rs397517920 dbSNP
Genome: hg19
Position: chr8:72,111,606-72,111,606
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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