Unique variants in gene CDH11

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.2039C>A VUS r.(?) p.(Thr680Asn) g.64981858G>T - CDH11:c.2039C>A (T680N) - CDH11_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
./. 1 - c.2132C>T - r.(?) p.(Ala711Val) 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 - - - - - Marjolijn JL Ligtenberg
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