All variants in the EGFL6 gene

Information The variants shown are described using the NM_015507.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.1127A>G r.(?) p.(Glu376Gly) - likely benign g.13637306A>G g.13619187A>G EGFL6(NM_001167890.1):c.1127A>G (p.(Glu376Gly)) - EGFL6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1127A>G r.(?) p.(Glu376Gly) - VUS g.13637306A>G g.13619187A>G - - EGFL6_000043 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
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