Variant #0000405276 (NC_000001.10:g.114377568A>G, NM_015967.5:c.1858T>C (PTPN22))

Individual ID 00180643
Chromosome 1
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.114377568A>G
DNA change (hg38) g.113834946A>G
Published as -
ISCN -
DB-ID PTPN22_000002 See all 9 reported entries
Variant remarks for details see the Uveogene database
Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message.
Reference PubMed: Wallace 2007
ClinVar ID -
dbSNP ID rs2476601
Origin Germline
Segregation -
Frequency 563/738 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.9285 View details
Owner Peizeng Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-09-07 14:35:38 +02:00 (CEST)
Date last edited 2018-10-01 01:05:03 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PTPN22 NM_015967.5 ./. - c.1858T>C - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181580 DNA arraySNP Blood - PTPN22 1 Peizeng Yang


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