All transcript variants in gene IDS

Information The variants shown are described using the NM_000202.5 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend  

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     
+/. 3 c.265G>T - r.? p.(Val89Phe) g.148584995C>A - - - IDS_000008 - PubMed: Froisart 2007 - - Germline - - - 0 - Johan den Dunnen
Legend