All variants in the EYA1 gene

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

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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     
+/. _1_18_ c.-640_*1907{0} r.0? p.0? - pathogenic (dominant) g.(?_72109668)_(72274467_?)del g.(?_71197433)_(71362232_?)del del ex1-18 - EYA1_000216 - PubMed: Razmara 2018 - - De novo - - - 0 - Ehsan Razmara
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