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.164C>T r.(?) p.(Thr55Met) - pathogenic g.72246370G>A g.71334135G>A - - EYA1_000209 - MORL Deafness Variation Database, PubMed: Orten 2008 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
?/. - c.164C>T r.(?) p.(Thr55Met) - VUS g.72246370G>A g.71334135G>A - - EYA1_000209 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201434219 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.164C>T r.(?) p.(Thr55Met) - VUS g.72246370G>A - EYA1(NM_000503.5):c.164C>T (p.T55M) - EYA1_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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