All variants in the PTPN11 gene

Information The variants shown are described using the NM_002834.3 transcript reference sequence.

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Effect     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

CpG     

Enzyme activity     

mRNA level     

Protein level     

Classification method     

Clinical classification     

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     
-?/. - - - - - c.558G>T r.(?) p.(Arg186=) - - - - - - likely benign g.112892400G>T g.112454596G>T PTPN11(NM_002834.3):c.558G>T (p.R186=) - PTPN11_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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