All transcript variants in gene CDR1

Information The variants shown are described using the NM_004065.2 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.300G>A - r.(=) p.(=) g.139866232C>T - L100L - CDR1_000008 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.452G>A likely benign r.(?) p.(Arg151His) g.139866080C>T - CDR1(NM_004065.2):c.452G>A (p.R151H) - CDR1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.481G>A VUS r.(?) p.(Gly161Arg) g.139866051C>T - CDR1(NM_004065.2):c.481G>A (p.(Gly161Arg)) - CDR1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.571T>C - r.(?) p.(Trp191Arg) g.139865961A>G - - - CDR1_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.620T>C - r.(?) p.(Ile207Thr) g.139865912A>G - - - CDR1_000006 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.670C>T likely benign r.(?) p.(Arg224Cys) g.139865862G>A - CDR1(NM_004065.2):c.670C>T (p.(Arg224Cys)) - CDR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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