Full data view for gene EYA1

Information The variants shown are described using the NM_000503.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.782C>T r.(?) p.(Pro261Leu) Unknown - likely benign g.72211326G>A g.71299091G>A EYA1(NM_000503.5):c.782C>T (p.P261L) - EYA1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.782C>T r.(?) p.(Pro261Leu) Parent #1 - likely benign g.72211326G>A g.71299091G>A - - EYA1_000051 23 heterozygous; Clinindb (India) Faruq 2020, submtted - rs77825059 Germline - 23/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 23 Mohammed Faruq
-?/. - c.782C>T r.(?) p.(Pro261Leu) Both (homozygous) - likely benign g.72211326G>A g.71299091G>A - - EYA1_000051 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs77825059 Germline - 2/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
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