All transcript variants in gene EXT2

A Multiple Osteochondroma Mutation Database
Information The variants shown are described using the transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 6 c.1178G>A - r.spl? p.(Arg393Lys) g.44148505G>A - - - EXT2_000391 - - rs138187791 Germline yes - - 0 - Patrizia De Marco
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