chr8:71215630:A>G 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	chr8:72,127,865-72,127,865 View the variant detail on this assembly version.
hg38	chr8:71,215,630-71,215,630

HGVS

EYA1

Type	Transcript	Protein
RefSeq	NM_000503.5:c.1459T>C	NP_000494.2:p.Ser487Pro
	NM_001288574.1:c.1459T>C	NP_001275503.1:p.Ser487Pro
	NM_001288575.1:c.1459T>C	NP_001275504.1:p.Ser487Pro
	NM_172060.3:c.1360T>C	NP_742057.1:p.Ser454Pro
	NM_172058.3:c.1459T>C	NP_742055.1:p.Ser487Pro
	NM_172059.3:c.1354T>C	NP_742056.1:p.Ser452Pro
Ensemble	ENST00000303824.11:c.1441T>C	ENST00000303824.11:p.Ser481Pro
	ENST00000340726.8:c.1459T>C	ENST00000340726.8:p.Ser487Pro
	ENST00000388740.4:c.1360T>C	ENST00000388740.4:p.Ser454Pro
	ENST00000388741.7:c.1357T>C	ENST00000388741.7:p.Ser453Pro
	ENST00000388742.8:c.1459T>C	ENST00000388742.8:p.Ser487Pro
	ENST00000388743.6:c.1456T>C	ENST00000388743.6:p.Ser486Pro
	ENST00000419131.6:c.1354T>C	ENST00000419131.6:p.Ser452Pro
	ENST00000643681.1:c.1546T>C	ENST00000643681.1:p.Ser516Pro
	ENST00000644229.1:c.1441T>C	ENST00000644229.1:p.Ser481Pro
	ENST00000644712.1:c.1438T>C	ENST00000644712.1:p.Ser480Pro
	ENST00000645793.1:c.1459T>C	ENST00000645793.1:p.Ser487Pro
	ENST00000647540.1:c.1459T>C	ENST00000647540.1:p.Ser487Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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	1997-12-01	no assertion criteria provided	branchiootorenal syndrome 1	germline	Detail
Pathogenic	2023-05-21	criteria provided, single submitter	Melnick-Fraser syndrome	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.1459T>C (p.Ser487Pro) AND Branchiootorenal syndrome 1	ClinVar	Detail
NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro) AND Melnick-Fraser syndrome	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: rs121909200 dbSNP
Genome: hg38
Position: chr8:71,215,630-71,215,630
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8632
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121340
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.241305422778968E-6

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