All variants in the EYA1 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.880C>T r.(?) p.(Arg294Ter) - pathogenic g.72184079G>A g.71271844G>A EYA1(NM_001370335.1):c.880C>T (p.R294*) - EYA1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ - c.880C>T r.(?) p.(Arg294*) - pathogenic g.72184079G>A g.71271844G>A - - EYA1_000050 - MORL Deafness Variation Database, PubMed: Kumar 1998, PubMed: Krug 2011, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+/. - c.880C>T r.(?) p.(Arg294Ter) - pathogenic g.72184079G>A - EYA1(NM_001370335.1):c.880C>T (p.R294*) - EYA1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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