Full data view for gene TBXA2R

Information The variants shown are described using the NM_001060.5 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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.198C>G r.(?) p.(Phe66Leu) Unknown - likely benign g.3600435G>C g.3600437G>C TBXA2R(NM_001060.5):c.198C>G (p.F66L) - TBXA2R_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.429C>T r.(?) p.(Val143=) Unknown - likely benign g.3600204G>A - TBXA2R(NM_001060.5):c.429C>T (p.V143=) - TBXA2R_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.472del r.(?) p.(Ala158Argfs*28) Unknown - likely pathogenic g.3600163del - TBXA2R(NM_001060.5):c.472delG (p.A158Rfs*28) - TBXA2R_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.472G>A r.(?) p.(Ala158Thr) Unknown - VUS g.3600161C>T g.3600163C>T - - TBXA2R_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.558G>A r.(?) p.(Thr186=) Unknown - likely benign g.3600075C>T - TBXA2R(NM_001060.5):c.558G>A (p.T186=) - TBXA2R_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5514C>G r.(=) p.(=) Unknown - likely benign g.3590172G>C g.3590174G>C GIPC3(NM_133261.2):c.923G>C (p.R308T) - GIPC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5534C>T r.(=) p.(=) Unknown - pathogenic g.3590152G>A - - - GIPC3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5566C>T r.(=) p.(=) Unknown - VUS g.3590120G>A g.3590122G>A - - GIPC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5581C>T r.(=) p.(=) Unknown - likely benign g.3590105G>A g.3590107G>A GIPC3(NM_133261.2):c.856G>A (p.V286I) - GIPC3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5599C>G r.(=) p.(=) Unknown - VUS g.3590087G>C g.3590089G>C GIPC3(NM_133261.2):c.838G>C (p.A280P) - GIPC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*5599C>G r.(=) p.(=) Unknown - likely pathogenic g.3590087G>C g.3590089G>C GIPC3(NM_133261.2):c.838G>C (p.A280P) - GIPC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5658C>T r.(=) p.(=) Unknown - VUS g.3590028G>A g.3590030G>A GIPC3(NM_133261.2):c.788-9G>A - GIPC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5790C>T r.(=) p.(=) Unknown - VUS g.3589896G>A g.3589898G>A GIPC3(NM_133261.2):c.773G>A (p.R258Q) - GIPC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5866A>C r.(=) p.(=) Unknown - likely benign g.3589820T>G g.3589822T>G GIPC3(NM_133261.2):c.706-9T>G - GIPC3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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