All variants in the PTPN11 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.525+12G>C r.(=) p.(=) - - - - - - benign g.112891203G>C g.112453399G>C PTPN11(NM_002834.3):c.525+12G>C - PTPN11_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - - - - - c.525+12G>C r.(=) p.(=) - - - - - - benign g.112891203G>C g.112453399G>C PTPN11(NM_002834.3):c.525+12G>C - PTPN11_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - - - - - c.525+12G>C r.(=) p.(=) - - - - - - likely benign g.112891203G>C g.112453399G>C PTPN11(NM_002834.3):c.525+12G>C - PTPN11_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - - - - - c.525+12G>C r.(=) p.(=) - - - - - - benign g.112891203G>C g.112453399G>C PTPN11(NM_002834.3):c.525+12G>C - PTPN11_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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