All variants in the PTPN11 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/+? A0154 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.228G>T r.(?) p.(Glu76Asp) SH2_1 - - - - - likely pathogenic g.112888212G>T g.112450408G>T - - PTPN11_000020 - PubMed: Musante, L et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0155 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.228G>T r.(?) p.(Glu76Asp) SH2_1 - - - - - likely pathogenic g.112888212G>T g.112450408G>T - - PTPN11_000020 - PubMed: Zenker, M et al. (2004) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+/. - - - - - c.228G>T r.(?) p.(Glu76Asp) - - - - - - pathogenic g.112888212G>T g.112450408G>T - - PTPN11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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