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) |

Variant on transcripts
Screenings
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