Full data view for gene PTPN11

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

2 entries on 1 page. Showing entries 1 - 2.
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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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/+? A0006 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.172A>G r.(?) p.(Asn58Asp) SH2_1 - - - - Unknown - likely pathogenic g.112888156A>G g.112450352A>G - - PTPN11_000040 - PubMed: Zenker, M et al. (2004) - - Unknown - - - - - DNA ? - - NS - PubMed: Zenker, M (2004) - - ? - - - - - - 1 Gerard C.P. Schaafsma
+/. - - - - - c.172A>G r.(?) p.(Asn58Asp) - - - - - Unknown - pathogenic g.112888156A>G g.112450352A>G - - PTPN11_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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