Full data view for 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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.880C>T pathogenic r.(?) p.(Arg294*) Unknown g.72184079G>A - - - EYA1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 14 c.880C>T Pathogenic r.(?) p.(Arg294*) Parent #1 g.72184079G>A - - - EYA1_000050 - MORL Deafness Variation Database, PubMed: Kumar 1998, PubMed: Krug 2011, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Kumar 1998, PubMed: Krug 2011, PubMed: Xiong 2015 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
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