Variant #0000129389 (NC_000012.11:g.112888166A>T, PTPN11(NM_002834.3):c.182A>T)

Individual ID 00080338
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.112888166A>T
DNA change (hg38) g.112450362A>T
Published as -
ISCN -
DB-ID PTPN11_000035 See all 11 reported entries
Variant remarks -
Reference PubMed: Kratz, C. P et al. (2005)
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gerard C.P. Schaafsma
Database submission license No license selected
Created by Gerard C.P. Schaafsma
Options




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 +?/+? A0042 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.182A>T r.(?) p.(Asp61Val) SH2_1 - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080431 DNA ? - - PTPN11 1 Gerard C.P. Schaafsma