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     

Owner     
-?/. - c.782C>T likely benign r.(?) p.(Pro261Leu) g.72211326G>A - EYA1(NM_000503.5):c.782C>T (p.P261L) - EYA1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.782C>T - r.(?) p.(Pro261Leu) g.72211326G>A g.71299091G>A - - EYA1_000051 23 heterozygous, 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs77825059 Germline - 25/2768 individuals - 0 - Mohammed Faruq
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