All transcript variants in gene EYA1

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

3 entries on 1 page. Showing entries 1 - 3.
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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     

Owner     
+?/? - c.1460C>T - r.(?) p.(Ser487Leu) g.72127864G>A - - - EYA1_000001 same as in unrelated patient, segregation analysis needed - - - Unknown ? - - - - Marcel Nelen
+?/? - c.1460C>T - r.(?) p.(Ser487Leu) g.72127864G>A - - - EYA1_000001 same as in unrelated patient, segregation analysis needed - - - Unknown ? - - - - Marcel Nelen
?/. - c.1460C>T VUS r.(?) p.(Ser487Leu) g.72127864G>A - EYA1(NM_000503.5):c.1460C>T (p.S487L) - EYA1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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