Full data view for 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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 6 c.1178G>A - r.spl? p.(Arg393Lys) Maternal (confirmed) g.44148505G>A - - - EXT2_000391 - - rs138187791 Germline yes - - 0 - DNA SEQ-NG-I blood - CM-1 @DRN - - M no (Italy) white - 0 yes surgery of cranial posterior fossa 2 Patrizia De Marco
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