chr8:71215479:GTTGTTA> 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	chr8:72,127,714-72,127,720
hg38	chr8:71,215,479-71,215,485

HGVS

EYA1

Type	Transcript	Protein
RefSeq	NM_000503.5:c.1499_1505delTAACAAC	NP_000494.2:p.Thr501LeufsTer15
	NM_001288574.1:c.1499_1505delTAACAAC	NP_001275503.1:p.Thr501LeufsTer15
	NM_001288575.1:c.1499_1505delTAACAAC	NP_001275504.1:p.Thr501LeufsTer15
	NM_172060.3:c.1400_1406delTAACAAC	NP_742057.1:p.Thr468LeufsTer15
	NM_172058.3:c.1499_1505delTAACAAC	NP_742055.1:p.Thr501LeufsTer15
	NM_172059.3:c.1394_1400delTAACAAC	NP_742056.1:p.Thr466LeufsTer15
Ensemble	ENST00000303824.11:c.1481_1487delTAACAAC	ENST00000303824.11:p.Thr495LeufsTer15
	ENST00000340726.8:c.1499_1505delTAACAAC	ENST00000340726.8:p.Thr501LeufsTer15
	ENST00000388740.4:c.1400_1406delTAACAAC	ENST00000388740.4:p.Thr468LeufsTer15
	ENST00000388741.7:c.1397_1403delTAACAAC	ENST00000388741.7:p.Thr467LeufsTer15
	ENST00000388742.8:c.1499_1505delTAACAAC	ENST00000388742.8:p.Thr501LeufsTer15
	ENST00000388743.6:c.1496_1502delTAACAAC	ENST00000388743.6:p.Thr500LeufsTer15
	ENST00000419131.6:c.1394_1400delTAACAAC	ENST00000419131.6:p.Thr466LeufsTer15
	ENST00000643681.1:c.1586_1592delTAACAAC	ENST00000643681.1:p.Thr530LeufsTer15
	ENST00000644229.1:c.1481_1487delTAACAAC	ENST00000644229.1:p.Thr495LeufsTer15
	ENST00000644712.1:c.1478_1484delTAACAAC	ENST00000644712.1:p.Thr494LeufsTer15
	ENST00000645793.1:c.1499_1505delTAACAAC	ENST00000645793.1:p.Thr501LeufsTer15
	ENST00000647540.1:c.1499_1505delTAACAAC	ENST00000647540.1:p.Thr501LeufsTer15

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	2004-07-01	no assertion criteria provided	Branchiootic syndrome 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	Branchiootic syndrome 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000503.6(EYA1):c.1501_1507del (p.Thr501fs) 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: rs606231356 dbSNP
Genome: hg38
Position: chr8:71,215,479-71,215,485
Variant Type: snv
Reference Allele: GTTGTTA
Alternative Allele: -

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