chr8:72128968:C>T 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	chr8:72,128,968-72,128,968
hg38	chr8:71,216,733-71,216,733 View the variant detail on this assembly version.

HGVS

EYA1

Type	Transcript	Protein
RefSeq	NM_172058.3:c.1319G>A	NP_742055.1:p.Arg440Gln
	NM_000503.5:c.1319G>A	NP_000494.2:p.Arg440Gln
	NM_001288574.1:c.1319G>A	NP_001275503.1:p.Arg440Gln
	NM_001288575.1:c.1319G>A	NP_001275504.1:p.Arg440Gln
	NM_172060.3:c.1220G>A	NP_742057.1:p.Arg407Gln
	NM_172059.3:c.1214G>A	NP_742056.1:p.Arg405Gln
Ensemble	ENST00000388743.6:c.1316G>A	ENST00000388743.6:p.Arg439Gln
	ENST00000388742.8:c.1319G>A	ENST00000388742.8:p.Arg440Gln
	ENST00000303824.11:c.1301G>A	ENST00000303824.11:p.Arg434Gln
	ENST00000388741.7:c.1217G>A	ENST00000388741.7:p.Arg406Gln
	ENST00000340726.8:c.1319G>A	ENST00000340726.8:p.Arg440Gln
	ENST00000388740.4:c.1220G>A	ENST00000388740.4:p.Arg407Gln
	ENST00000419131.6:c.1214G>A	ENST00000419131.6:p.Arg405Gln
	ENST00000643681.1:c.1406G>A	ENST00000643681.1:p.Arg469Gln
	ENST00000644229.1:c.1301G>A	ENST00000644229.1:p.Arg434Gln
	ENST00000644712.1:c.1298G>A	ENST00000644712.1:p.Arg433Gln
	ENST00000645793.1:c.1319G>A	ENST00000645793.1:p.Arg440Gln
	ENST00000647540.1:c.1319G>A	ENST00000647540.1:p.Arg440Gln

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	7
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic 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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic	2021/11/08	hearing impairment	germline	MGS000053 (TMGS000124)	Tatsuo Matsunaga Tatsuo Matsunaga	National Hospital Organization Tokyo Medical Center National Hospital Organization Tokyo Medical Center, National Institute of Sensory Organs
Likely pathogenic	2021/11/08	branchial anomaly	germline	MGS000053 (TMGS000124)	Tatsuo Matsunaga Tatsuo Matsunaga	National Hospital Organization Tokyo Medical Center National Hospital Organization Tokyo Medical Center, National Institute of Sensory Organs
Likely pathogenic	2021/11/08	morphological abnormality of the inner ear	germline	MGS000053 (TMGS000124)	Tatsuo Matsunaga Tatsuo Matsunaga	National Hospital Organization Tokyo Medical Center National Hospital Organization Tokyo Medical Center, National Institute of Sensory Organs
Likely pathogenic	2021/11/08	morphological abnormality of the middle ear	germline	MGS000053 (TMGS000124)	Tatsuo Matsunaga Tatsuo Matsunaga	National Hospital Organization Tokyo Medical Center National Hospital Organization Tokyo Medical Center, National Institute of Sensory Organs
Likely pathogenic	2021/11/08	cochlear malformation	germline	MGS000053 (TMGS000124)	Tatsuo Matsunaga Tatsuo Matsunaga	National Hospital Organization Tokyo Medical Center National Hospital Organization Tokyo Medical Center, National Institute of Sensory Organs
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000071 (TMGS000143)	Kenjiro Kosaki	Keio University Kobe Universtiy

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1997-01-01	no assertion criteria provided	branchiootorenal syndrome 1	germline	Detail
Pathogenic	2011-05-19	criteria provided, single submitter	Rare genetic deafness	germline	Detail
Pathogenic	2019-01-17	no assertion criteria provided	branchiooculofacial syndrome	germline	Detail
Pathogenic	2023-12-18	criteria provided, single submitter	Melnick-Fraser syndrome	germline	Detail
Likely pathogenic	2022-08-02	criteria provided, single submitter	Branchiootic 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.1319G>A (p.Arg440Gln) AND Branchiootorenal syndrome 1	ClinVar	Detail
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) AND Rare genetic deafness	ClinVar	Detail
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) AND Branchiooculofacial syndrome	ClinVar	Detail
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) AND Melnick-Fraser syndrome	ClinVar	Detail
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) AND Branchiootic 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: rs121909196 dbSNP
Genome: hg19
Position: chr8:72,128,968-72,128,968
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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