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     
+?/+? A0232 - amino acid substitution (VariO:0021) - - c.417G>? r.(?) p.(Glu139Asp) SH2_2 - - - - - likely pathogenic g.112891083G>? - - - PTPN11_000048 - PubMed: Karow et al. (2007) - - Germline - - - 0 - Gerard C.P. Schaafsma
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