All variants in the CHRDL1 gene

Information The variants shown are described using the NM_145234.3 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.951A>G r.(?) p.(=) - VUS g.109931856T>C g.110688628T>C - - CHRDL1_000006 - - - - Germline - - - - - Yu Sun
?/. - c.951A>G r.(?) p.(=) - VUS g.109931856T>C g.110688628T>C - - CHRDL1_000006 - - - - Germline - - - - - Yu Sun
-/. - c.951A>G r.(?) p.(Lys317=) - benign g.109931856T>C g.110688628T>C CHRDL1(NM_001143981.2):c.954A>G (p.K318=) - CHRDL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. 9 c.951A>G r.(?) p.(=) - likely benign g.109931856T>C g.110688628T>C K317K - CHRDL1_000006 recurrent, found 74 times PubMed: Tarpey 2009 - - Germline - 74/208 cases - 0 - Lucy Raymond
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