All variants in the EYA1 gene

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

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. - c.922C>T r.(?) p.(Arg308Ter) - pathogenic g.72184037G>A g.71271802G>A - - EYA1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ - c.922C>T r.(?) p.(Arg308*) - pathogenic g.72184037G>A g.71271802G>A - - EYA1_000036 - MORL Deafness Variation Database, PubMed: Abdelhak 1997, PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Orten 2008, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
Legend   How to query