Unique variants in the EPHA4 gene

Information The variants shown are described using the NM_004438.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Effect     

Reported     

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     
?/. 1 - c.366dup r.(?) p.(Asn123Ter) - VUS g.222428910dup g.221564190dup EPHA4(NM_001304536.1):c.366dupT (p.N123*) - EPHA4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1465C>T r.(?) p.(Arg489Cys) - VUS g.222321471G>A g.221456751G>A - - EPHA4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1774+3A>G r.spl? p.? - VUS g.222310840T>C g.221446120T>C EPHA4(NM_001304536.1):c.1774+3A>G - EPHA4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query