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.643-340T>C r.(=) p.(=) - - - - - - likely benign g.112893414T>C g.112455610T>C - - PTPN11_000123 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11066313 Germline - 1/2791 individuals - 0 - Mohammed Faruq
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