Full data view for gene RAPGEF1

Information The variants shown are described using the NM_005312.2 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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.455C>G r.(?) p.(Ser152Cys) Unknown - VUS g.134514167G>C g.131638780G>C RAPGEF1(NM_005312.2):c.455C>G (p.(Ser152Cys)) - RAPGEF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.690-3C>T r.spl? p.? Unknown - VUS g.134504644G>A g.131629257G>A RAPGEF1(NM_005312.2):c.690-3C>T (p.?) - RAPGEF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.729C>G r.(?) p.(Ile243Met) Unknown - VUS g.134504602G>C g.131629215G>C RAPGEF1(NM_005312.2):c.729C>G (p.(Ile243Met)) - RAPGEF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1069C>G r.(?) p.(Leu357Val) Unknown - VUS g.134503381G>C g.131627994G>C RAPGEF1(NM_198679.1):c.1123C>G (p.L375V) - RAPGEF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1127G>A r.(?) p.(Arg376Gln) Unknown - likely benign g.134503323C>T - RAPGEF1(NM_005312.2):c.1127G>A (p.(Arg376Gln)) - RAPGEF1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1200A>T r.(?) p.(=) Unknown - likely benign g.134501760T>A g.131626373T>A RAPGEF1(NM_198679.1):c.1254A>T (p.A418=) - RAPGEF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1355C>T r.(?) p.(Thr452Met) Unknown - likely benign g.134501605G>A g.131626218G>A RAPGEF1(NM_198679.1):c.1409C>T (p.T470M) - RAPGEF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2132-9del r.(=) p.(=) Unknown - benign g.134467584del g.131592197del RAPGEF1(NM_198679.1):c.2186-9delT - RAPGEF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2216+11C>T r.(=) p.(=) Unknown - likely benign g.134467475G>A g.131592088G>A RAPGEF1(NM_198679.1):c.2270+11C>T - RAPGEF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.3035G>A r.(?) p.(Arg1012Gln) Unknown - likely pathogenic g.134455698C>T g.131580311C>T NM_198679.1:c.3089G>A (Arg1030Gln) - RAPGEF1_000008 candidate variant PubMed: de Ligt 2012 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ID 23033978-Trio87 PubMed: de Ligt 2012 - F - Netherlands - - 0 - - 1 Johan den Dunnen
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