Full data view for gene CDKN1B

Information The variants shown are described using the NM_004064.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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     
?/? 1 c.-73G>A r.(?) p.(=) Unknown - VUS g.12870701G>A g.12717767G>A - - CDKN1B_000001 - - - - De novo - - - 0 - DNA PCR, SEQ - - MEN-4 - - - - no India - - 0 - - 1 Veronica Yu
-?/. - c.24C>T r.(?) p.(Asn8=) Unknown - likely benign g.12870797C>T g.12717863C>T CDKN1B(NM_004064.4):c.24C>T (p.N8=) - CDKN1B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.206C>T r.(?) p.(Pro69Leu) Parent #1 - VUS g.12870979C>T g.12718045C>T - - CDKN1B_000005 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-?/. - c.277C>T r.(?) p.(Arg93Trp) Parent #1 - likely benign g.12871050C>T g.12718116C>T - - CDKN1B_000017 25 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140167393 Germline - 25/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 25 Mohammed Faruq
+?/. - c.283C>T r.(?) p.(Pro95Ser) Unknown - likely pathogenic g.12871056C>T g.12718122C>T CDKN1B(NM_004064.4):c.283C>T (p.P95S) - CDKN1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.283C>T r.(?) p.(Pro95Ser) Unknown - VUS g.12871056C>T g.12718122C>T CDKN1B(NM_004064.4):c.283C>T (p.P95S) - CDKN1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.294C>T r.(?) p.(Ala98=) Unknown - likely benign g.12871067C>T g.12718133C>T CDKN1B(NM_004064.4):c.294C>T (p.A98=) - CDKN1B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.294C>T r.(?) p.(Ala98=) Unknown - likely benign g.12871067C>T g.12718133C>T CDKN1B(NM_004064.4):c.294C>T (p.A98=) - CDKN1B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.326T>G r.(?) p.(Val109Gly) Unknown - benign g.12871099T>G g.12718165T>G CDKN1B(NM_004064.4):c.326T>G (p.V109G) - CDKN1B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.356T>C r.(?) p.(Ile119Thr) Parent #1 - VUS g.12871129T>C g.12718195T>C - - CDKN1B_000006 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 2 Melissa DeRycke
-?/. - c.356T>C r.(?) p.(Ile119Thr) Unknown - likely benign g.12871129T>C g.12718195T>C CDKN1B(NM_004064.3):c.356T>C (p.(Ile119Thr)) - CDKN1B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.397C>A r.(?) p.(Pro133Thr) Parent #1 - VUS g.12871170C>A g.12718236C>A - - CDKN1B_000002 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.413C>T r.(?) p.(Ser138Leu) Parent #1 - VUS g.12871186C>T g.12718252C>T - - CDKN1B_000003 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
+/. - c.413_414insT r.(?) p.(Asp139GlyfsTer66) Unknown - pathogenic g.12871186_12871187insT g.12718252_12718253insT CDKN1B(NM_004064.4):c.413_414insT (p.D139Gfs*66) - CDKN1B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.425C>T r.(?) p.(Thr142Met) Parent #1 - VUS g.12871198C>T g.12718264C>T - - CDKN1B_000004 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-?/. - c.426G>A r.(?) p.(Thr142=) Unknown - likely benign g.12871199G>A g.12718265G>A CDKN1B(NM_004064.4):c.426G>A (p.T142=) - CDKN1B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.426G>A r.(?) p.(Thr142=) Unknown - likely benign g.12871199G>A g.12718265G>A CDKN1B(NM_004064.4):c.426G>A (p.T142=) - CDKN1B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.426G>A r.(?) p.(Thr142=) Unknown - likely benign g.12871199G>A g.12718265G>A CDKN1B(NM_004064.4):c.426G>A (p.T142=) - CDKN1B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.430T>G r.(?) p.(Leu144Val) Unknown - VUS g.12871203T>G - CDKN1B(NM_004064.3):c.430T>G (p.(Leu144Val)) - CDKN1B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.570G>C r.(?) p.(Lys190Asn) Unknown - VUS g.12871853G>C g.12718919G>C CDKN1B(NM_004064.4):c.570G>C (p.K190N) - CDKN1B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.577C>T r.(?) p.(Leu193Phe) Parent #1 - VUS g.12871860C>T g.12718926C>T - - CDKN1B_000016 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.577C>T r.(?) p.(Leu193Phe) Parent #1 - VUS g.12871860C>T g.12718926C>T - - CDKN1B_000016 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 4 Melissa DeRycke
-?/. - c.577C>T r.(?) p.(Leu193Phe) Unknown - likely benign g.12871860C>T g.12718926C>T CDKN1B(NM_004064.3):c.577C>T (p.(Leu193Phe)) - CDKN1B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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