Full data view for gene CDK4

Information The variants shown are described using the NM_000075.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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     

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Gender     

Consanguinity     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-20G>A r.(?) p.(?) Unknown - VUS g.58145958C>T - - - CDK4_000008 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.70C>T r.(?) p.(Arg24Cys) Unknown - pathogenic g.58145431G>A g.57751648G>A - - CDK4_000001 detected in melanoma cell line, not in individual's lymphocytes PubMed: Wölfel 1995, OMIM:var0001 - rs11547328 Somatic - - - - - DNA SEQ - - melanoma 07652577 PubMed: Wölfel 1995 - ? - Germany - - - - - 1 Johan den Dunnen
+/. 2 c.70C>T r.(?) p.(Arg24Cys) Parent #1 - pathogenic g.58145431G>A g.57751648G>A - - CDK4_000001 - PubMed: Zuo 1996 - rs11547328 Germline yes - - - - DNA SEQ - - melanoma 08528263-Fams PubMed: Zuo 1996 2 families, variant in 11/11 melanoma patients, 2/17 unaffecteds and 0/5 spouses - no United States - - - - - 11 Johan den Dunnen
+/. 2 c.71G>A r.(?) p.(Arg24His) Parent #1 - pathogenic g.58145430C>T g.57751647C>T - - CDK4_000002 - PubMed: Molven 2005, OMIM:var0002 - rs104894340 Germline yes - - - - DNA SEQ - - melanoma 15880589-Fam1 PubMed: Molven 2005 5-generation family, 20 affecteds (9F, 11M) F;M no Norway - - - - - 20 Johan den Dunnen
+/. 2 c.71G>A r.(?) p.(Arg24His) Parent #1 - pathogenic g.58145430C>T g.57751647C>T - - CDK4_000002 - PubMed: Molven 2005, OMIM:var0002 - rs104894340 Germline yes - - - - DNA SEQ - - melanoma 15880589-Fam2 PubMed: Molven 2005 4-generation family, 10 affecteds - no Australia - - - - - 10 Johan den Dunnen
+/. 2 c.71G>A r.(?) p.(Arg24His) Parent #1 - pathogenic g.58145430C>T g.57751647C>T - - CDK4_000002 - PubMed: Molven 2005, OMIM:var0002 - rs104894340 Germline yes - - - - DNA SEQ - - melanoma 15880589-Fam3 PubMed: Molven 2005 3-generation family, 3 affecteds - no United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+/. 2 c.71G>A r.(?) p.(Arg24His) Paternal (confirmed) - pathogenic g.58145430C>T g.57751647C>T - - CDK4_000002 - PubMed: Soufir 19986 - rs104894340 Germline yes - - - - DNA SEQ, SSCA - - melanoma 09425228-Fam759 PubMed: Soufir 19986 3-generation family, 3 affecteds (3M) M no France - - - - - 3 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Arg24His) Unknown - pathogenic g.58145430C>T - - - CDK4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.122A>G r.(?) p.(Asn41Ser) Unknown - VUS g.58145379T>C - CDK4(NM_000075.3):c.122A>G (p.(Asn41Ser)) - CDK4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.219-31G>A r.(=) p.(=) Unknown - benign g.58145156C>T - CDK4(NM_000075.4):c.219-31G>A (None) - CDK4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.219-17G>A r.(=) p.(=) Unknown - likely benign g.58145142C>T g.57751359C>T CDK4(NM_000075.4):c.219-17G>A - CDK4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245G>A r.(?) p.(Arg82Gln) Unknown - VUS g.58145099C>T - CDK4(NM_000075.3):c.245G>A (p.(Arg82Gln)) - CDK4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347C>T r.(?) p.(Thr116Met) Unknown - VUS g.58144997G>A - CDK4(NM_000075.3):c.347C>T (p.(Thr116Met)) - CDK4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.460G>C r.(?) p.(Val154Leu) Unknown - VUS g.58144768C>G - - - CDK4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522+18A>G r.(=) p.(=) Unknown - likely benign g.58144688T>C - CDK4(NM_000075.2):c.522+18A>G - CDK4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.522+41G>A r.(=) p.(=) Unknown - benign g.58144665C>T - CDK4(NM_000075.4):c.522+41G>A (None) - CDK4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.625C>T r.(?) p.(Arg209Cys) Unknown - VUS g.58144446G>A g.57750663G>A CDK4(NM_000075.2):c.625C>T (p.R209C), CDK4(NM_000075.3):c.625C>T (p.(Arg209Cys)) - CDK4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.625C>T r.(?) p.(Arg209Cys) Unknown - VUS g.58144446G>A g.57750663G>A CDK4(NM_000075.2):c.625C>T (p.R209C), CDK4(NM_000075.3):c.625C>T (p.(Arg209Cys)) - CDK4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.753C>A r.(?) p.(=) Unknown - likely benign g.58143031G>T - CDK4(NM_000075.3):c.753C>A (p.(Pro251=)) - CDK4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.776C>T r.(?) p.(Ser259Leu) Unknown - VUS g.58143008G>A - CDK4(NM_000075.3):c.776C>T (p.(Ser259Leu)) - CDK4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.819+1G>A r.spl? p.? Unknown ACMG pathogenic g.58142964C>T - - - CDK4_000006 - PubMed: Mendonca 2021 - - Somatic - 0.041 - - - DNA SEQ-NG-I blood/FFPE tumor 160 genes RB1 Patient 62 PubMed: Mendonca 2021 - M - Brazil - - - - - 1 Vanessa Mendonça
-?/. - c.886C>T r.(?) p.(His296Tyr) Unknown - likely benign g.58142334G>A g.57748551G>A CDK4(NM_000075.3):c.886C>T (p.(His296Tyr)), CDK4(NM_000075.4):c.886C>T (p.H296Y) - CDK4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.886C>T r.(?) p.(His296Tyr) Unknown - VUS g.58142334G>A - CDK4(NM_000075.3):c.886C>T (p.(His296Tyr)), CDK4(NM_000075.4):c.886C>T (p.H296Y) - CDK4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*303dup r.(?) p.(=) Unknown - benign g.58142018dup - CDK4(NM_000075.3):c.*303dup (p.(=)) - CDK4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6472T>A r.(=) p.(=) Unknown - likely benign g.58135836A>T - AGAP2(NM_014770.4):c.19T>A (p.(Phe7Ile)) - AGAP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6513_*6514dup r.(=) p.(=) Unknown - VUS g.58135794_58135795dup g.57742011_57742012dup AGAP2(NM_014770.3):c.60_61dupGG (p.V21Gfs*7) - AGAP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6610C>T r.(=) p.(=) Unknown - VUS g.58135698G>A - AGAP2(NM_014770.3):c.157C>T (p.R53*) - AGAP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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