Variant #0000129493 (NC_000012.11:g.112891083G>?, PTPN11(NM_002834.3):c.417G>?)

Individual ID 00080442
Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.112891083G>?
DNA change (hg38) -
Published as -
ISCN -
DB-ID PTPN11_000048
Variant remarks -
Reference PubMed: Karow et al. (2007)
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Gerard C.P. Schaafsma
Database submission license No license selected
Created by Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     

CpG     

Enzyme activity     

mRNA level     

Protein level     
PTPN11 NM_002834.3 +?/+? A0232 - amino acid substitution (VariO:0021) - - c.417G>? r.(?) p.(Glu139Asp) SH2_2 - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080535 DNA ? - - PTPN11 1 Gerard C.P. Schaafsma