Full data view for gene AMACR

Information The variants shown are described using the NM_014324.5 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.1A>G r.(?) p.(Met1?) Unknown - VUS g.34008124T>C g.34008019T>C AMACR(NM_014324.6):c.1A>G (p.M1?) - AMACR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.25G>A r.(?) p.(Val9Met) Unknown - benign g.34008100C>T g.34007995C>T AMACR(NM_014324.6):c.25G>A (p.V9M), C1QTNF3-AMACR(NR_037951.1):n.765-2096G>A - AMACR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.364C>T r.(?) p.(His122Tyr) Unknown - VUS g.34005888G>A g.34005783G>A AMACR(NM_014324.5):c.364C>T (p.H122Y) - AMACR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.429G>A r.(?) p.(Pro143=) Unknown - likely benign g.34004802C>T - AMACR(NM_014324.6):c.429G>A (p.P143=) - AMACR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.524G>A r.(?) p.(Gly175Asp) Unknown - benign g.34004707C>T g.34004602C>T AMACR(NM_014324.6):c.524G>A (p.G175D), C1QTNF3-AMACR(NR_037951.1):n.908+1154G>A - AMACR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.602T>C r.(?) p.(Leu201Ser) Unknown - benign g.33998883A>G g.33998778A>G AMACR(NM_014324.6):c.602T>C (p.L201S), C1QTNF3-AMACR(NR_037951.1):n.958T>C - AMACR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.740-4509T>A r.(=) p.(=) Unknown - benign g.33994116A>T g.33994011A>T AMACR(NM_014324.6):c.740-4509T>A, C1QTNF3-AMACR(NR_037951.1):n.1096-4509T>A - AMACR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.829G>A r.(?) p.(Glu277Lys) Unknown - benign g.33989518C>T g.33989413C>T AMACR(NM_014324.6):c.829G>A (p.E277K), C1QTNF3-AMACR(NR_037951.1):n.1185G>A - AMACR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.837G>A r.(?) p.(Thr279=) Unknown - benign g.33989510C>T g.33989405C>T AMACR(NM_014324.5):c.837G>A (p.T279=), AMACR(NM_014324.6):c.837G>A (p.T279=) - AMACR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.837G>A r.(?) p.(Thr279=) Unknown - benign g.33989510C>T g.33989405C>T AMACR(NM_014324.5):c.837G>A (p.T279=), AMACR(NM_014324.6):c.837G>A (p.T279=) - AMACR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.837G>A r.(?) p.(Thr279=) Unknown - benign g.33989510C>T - AMACR(NM_014324.5):c.837G>A (p.T279=), AMACR(NM_014324.6):c.837G>A (p.T279=) - AMACR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.841G>C r.(?) p.(Ala281Pro) Unknown - VUS g.33989506C>G - AMACR(NM_014324.5):c.841G>C (p.A281P) - AMACR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844G>C r.(?) p.(Glu282Gln) Unknown - likely benign g.33989503C>G - AMACR(NM_014324.6):c.844G>C (p.E282Q) - AMACR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.942G>A r.(?) p.(Ser314=) Unknown - likely benign g.33989405C>T - AMACR(NM_014324.6):c.942G>A (p.S314=) - AMACR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*714T>C r.(=) p.(=) Unknown - likely benign g.33988484A>G - AMACR(NM_014324.6):c.*714T>C - AMACR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*753T>G r.(=) p.(=) Unknown - benign g.33988445A>C g.33988340A>C AMACR(NM_001167595.1):c.1153T>G (p.L385V), AMACR(NM_001167595.2):c.1153T>G (p.L385V) - AMACR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*753T>G r.(=) p.(=) Unknown - likely benign g.33988445A>C - AMACR(NM_001167595.1):c.1153T>G (p.L385V), AMACR(NM_001167595.2):c.1153T>G (p.L385V) - AMACR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4634T>C r.(=) p.(=) Unknown - likely pathogenic g.33984564A>G g.33984459A>G SLC45A2(NM_001012509.4):c.125T>C (p.M42T) - SLC45A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4656C>A r.(=) p.(=) Unknown - pathogenic g.33984542G>T g.33984437G>T - - SLC45A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4773del r.(?) p.(=) Unknown - pathogenic g.33984425del g.33984320del SLC45A2(NM_001012509.4):c.264delC (p.G89Dfs*24) - SLC45A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4819C>T r.(=) p.(=) Unknown - likely pathogenic g.33984379G>A g.33984274G>A SLC45A2(NM_001012509.4):c.310C>T (p.P104S) - SLC45A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4819C>T r.(=) p.(=) Unknown - VUS g.33984379G>A g.33984274G>A SLC45A2(NM_001012509.4):c.310C>T (p.P104S) - SLC45A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6723G>A r.(=) p.(=) Unknown - VUS g.33982475C>T g.33982370C>T SLC45A2(NM_001012509.4):c.428G>A (p.S143N) - AMACR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*6828_*6829dup r.(=) p.(=) Unknown - pathogenic g.33982369_33982370dup - SLC45A2(NM_001012509.4):c.533_534dupAG (p.G179Rfs*23) - SLC45A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*6828_*6829dup r.(=) p.(=) Unknown - pathogenic g.33982369_33982370dup - SLC45A2(NM_001012509.4):c.533_534dupAG (p.G179Rfs*23) - SLC45A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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