All transcript variants in gene CLDN2

Information The variants shown are described using the NM_001171092.1 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

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     
-?/. - c.-179+339T>C likely benign r.(=) p.(=) g.106144073T>C - RIPPLY1(NM_138382.2):c.362A>G (p.N121S) - CLDN2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-179+339T>C likely benign r.(=) p.(=) g.106144073T>C - RIPPLY1(NM_138382.2):c.362A>G (p.N121S) - CLDN2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-179+997G>A likely benign r.(=) p.(=) g.106144731G>A - RIPPLY1(NM_138382.2):c.269C>T (p.(Ala90Val)) - CLDN2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-179+2777A>G likely benign r.(=) p.(=) g.106146511A>G - RIPPLY1(NM_001171706.1):c.7T>C (p.(Ser3Pro)) - CLDN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-178-7744del - - p.(=) g.106163537del g.106920307del - - CLDN2_000001 - - - - Germline - - - - - Yu Sun
?/. 2 c.56T>C - r.(?) p.(Leu19Ser) g.106171514T>C - L19S - CLDN2_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
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