All transcript variants in gene IDS

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

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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     
+/. 3 c.284G>C - r.284g>c p.Arg95Thr g.148584976C>G - 408G>C - IDS_000053 - PubMed: Moreira da Silva 2001 - - Germline - - BssSI+ 0 - Johan den Dunnen
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