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.
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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.1029del r.(?) p.(Tyr344ThrfsTer22) - pathogenic g.72181997del g.71269762del EYA1(NM_000503.5):c.1029delC (p.Y344Tfs*22) - EYA1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ - c.1029del r.(?) p.(Tyr344ThrfsTer22) - pathogenic g.72181997del g.71269762del - - EYA1_000049 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
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