Genomic variant #0000129413

Individual ID 00080362
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.112888199C>T
DNA change (hg38) g.112450395C>T
Published as -
ISCN -
DB-ID PTPN11_000028 See all 18 reported entries
Variant remarks -
Reference PubMed: Chen, Y et al. (2006)
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Codon change     

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 +?/+? gcc -> gtc; 2 A0133 DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) amino acid substitution (VariO:0021) - 3 c.215C>T r.(?) p.(Ala72Val) SH2_1 - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080455 DNA ? - - PTPN11 1 Gerard C.P. Schaafsma