Variant #0000128863 (NC_000012.11:g.112888166A>C, NM_002834.3:c.182A>C (PTPN11))

Individual ID 00079905
Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.112888166A>C
DNA change (hg38) g.112450362A>C
Published as -
ISCN -
DB-ID PTPN11_000011 See all 2 reported entries
Variant remarks -
Reference PubMed: Chen 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Jelena Čalyševa
Database submission license No license selected
Created by Jelena Čalyševa
Date created 2016-08-26 15:41:39 +02:00 (CEST)
Date last edited 2017-01-10 15:03:54 +01:00 (CET)
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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 ?/. - transversion (VariO:0316) amino acid substitution (VariO:0021) - - c.182A>C r.(?) p.(Asp61Ala) SH2 - - - -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000079988 DNA ? - - PTPN11 1 Jelena Čalyševa


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