Full data view for gene CDR1

Information The variants shown are described using the NM_004065.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.82T>C r.(?) p.(Leu28=) Unknown - likely benign g.139866450A>G g.140784285A>G CDR1(NM_004065.2):c.82T>C (p.L28=) - CDR1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.300G>A r.(=) p.(=) Parent #1 - likely benign g.139866232C>T g.140784067C>T L100L - CDR1_000008 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.452G>A r.(?) p.(Arg151His) Unknown - likely benign g.139866080C>T g.140783915C>T CDR1(NM_004065.2):c.452G>A (p.R151H) - CDR1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.480C>T r.(?) p.(Ser160=) Unknown - likely benign g.139866052G>A g.140783887G>A CDR1(NM_004065.2):c.480C>T (p.S160=) - CDR1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.481G>A r.(?) p.(Gly161Arg) Unknown - VUS g.139866051C>T g.140783886C>T CDR1(NM_004065.2):c.481G>A (p.(Gly161Arg)) - CDR1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.571T>C r.(?) p.(Trp191Arg) Parent #1 - VUS g.139865961A>G g.140783796A>G - - CDR1_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.620T>C r.(?) p.(Ile207Thr) Parent #1 - VUS g.139865912A>G g.140783747A>G - - CDR1_000006 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.670C>T r.(?) p.(Arg224Cys) Unknown - likely benign g.139865862G>A g.140783697G>A CDR1(NM_004065.2):c.670C>T (p.(Arg224Cys)) - CDR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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