All transcript variants in gene RASD2

Information The variants shown are described using the NM_014310.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

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     
+?/. - c.170G>A likely pathogenic r.(?) p.(Arg57His) g.35943026G>A - - - RASD2_000001 - PubMed: Vadgama 2019, Journal: Vadgama 2019 - - De novo - - - 0 - Nirmal Vadgama
?/. - c.504C>G VUS r.(?) p.(Tyr168*) g.35947782C>G - RASD2(NM_014310,3):c.504C>G (p.Tyr168*) - RASD2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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