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.
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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     
+/. 3i c.418+1G>A - r.[397_418del;418_419ins418+1135_419-1037, 241_418del, 418_419ins418+1_418+34;418+1g>a, 418_419ins418+1_418+34{418+1g>a}ins418+1135_419-1037] p.? g.148584841C>T - - - IDS_000150 RNA level 0.8 of normal; low % inclusion intronin exon-3a detected in controls PubMed: Alves 2006 - - Germline - - - 0 - Yu Sun
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