All variants in the EYA1 gene

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

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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.671G>T r.(?) p.(Gly224Val) - pathogenic g.72211437C>A g.71299202C>A - - EYA1_000178 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
?/. - c.671G>T r.(?) p.(Gly224Val) - VUS g.72211437C>A g.71299202C>A - - EYA1_000178 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201509408 Germline - 1/2795 individuals - 0 - Mohammed Faruq
Legend   How to query