All transcript variants in gene CDH11

Information The variants shown are described using the NM_001797.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.785A>G r.(?) p.(Asn262Ser) - VUS g.65025697T>C g.64991794T>C CDH11(NM_001308392.1):c.785A>G (p.N262S) - CDH11_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.1639C>T r.(?) p.(Arg547*) - likely pathogenic g.65005485G>A g.64971582G>A - - CDH11_000004 - - - - Unknown - - - 0 - IMGAG
?/. - c.2039C>A r.(?) p.(Thr680Asn) - VUS g.64981858G>T g.64947955G>T CDH11(NM_001797.3):c.2039C>A (p.T680N) - CDH11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.2132C>T r.(?) p.(Ala711Val) - likely pathogenic g.64981765G>A g.64947862G>A NM_001797.3(CDH11):c.2132C>T p.(Ala711Val) - CDH11_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg
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