Variant #0000128914 (NC_000017.10:g.40474461T>A, STAT3(NM_139276.2):c.1940A>T)

Individual ID 00079959
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.40474461T>A
DNA change (hg38) g.42322443T>A
Published as -
ISCN -
DB-ID STAT3_000008 See all 6 reported entries
Variant remarks -
Reference PubMed: Jerez 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 14:09:07 +02:00 (CEST)
Date last edited 2019-07-27 11:53:48 +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 ?/. - c.1940A>T r.(?) p.(Asn647Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080037 DNA ? - - STAT3 1 Jelena Čalyševa