All transcript variants in gene EYA1

Information The variants shown are described using the NM_172058.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.880C>T pathogenic r.(?) p.(Arg294*) g.72184079G>A - - - EYA1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 14 c.880C>T Pathogenic r.(?) p.(Arg294*) g.72184079G>A - - - EYA1_000050 - - - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
Legend