Variant #0000128885 (NC_000017.10:g.40474420C>G, STAT3(NM_139276.2):c.1981G>C)

Individual ID 00079928
Chromosome 17
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.40474420C>G
DNA change (hg38) g.42322402C>G
Published as -
ISCN -
DB-ID STAT3_000026 See all 2 reported entries
Variant remarks -
Reference PubMed: Koskela 2012
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 2016-08-29 09:48:44 +02:00 (CEST)
Date last edited 2019-07-27 11:50:14 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STAT3 NM_139276.2 ?/. 21 c.1981G>C r.(?) p.(Asp661His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080007 DNA ? - - STAT3 1 Jelena Čalyševa