Unique variants in gene RAPGEF4

Information The variants shown are described using the NM_007023.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
?/. 1 4i c.444+7335_444+7336del - r.(?) p.(=) g.173686488_173686489del g.172821760_172821761del 173686465 deletion T -AA - RAPGEF4_000001 NM_001100397.1:c.-205_-204del PubMed: Pfeffer 2012 - - Germline no - - - - Johan den Dunnen
?/. 1 - c.2245G>A VUS r.(?) p.(Asp749Asn) g.173885435G>A - RAPGEF4:c.2245G>A (D749N) - RAPGEF4_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2629C>T VUS r.(?) p.(Arg877Cys) g.173894962C>T - RAPGEF4:NM_007023.3:c.2629C>T (Arg877Cys) - RAPGEF4_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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