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.
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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     

Clinical classification     

Classification method     

Owner     
+/. - c.557-2A>G pathogenic r.spl? p.? g.72211957T>C - EYA1(NM_000503.5):c.557-2A>G - EYA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - VKGL-NL_Utrecht
+/+ 9i c.557-2A>G Pathogenic r.spl? p.? g.72211957T>C - - - EYA1_000012 - MORL Deafness Variation Database, PubMed: Stockley 2009, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - - - LOVD-team, but with Curator vacancy
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