Variant #0000079570 (NC_000012.11:g.112888168T>G, PTPN11(NM_002834.3):c.184T>G)

Individual ID 00050645
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.112888168T>G
DNA change (hg38) g.112450364T>G
Published as -
ISCN -
DB-ID PTPN11_000009 See all 11 reported entries
Variant remarks -
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

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Protein     

P-domain     

CpG     

Enzyme activity     

mRNA level     

Protein level     
PTPN11 NM_002834.3 ./. - - - - - c.184T>G r.(?) p.(Tyr62Asp) - - - - -



Screenings


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Owner     
0000050590 DNA SEQ;SEQ-NG-I - - PTPN11 1 Johan den Dunnen