Variant #0000128889 (NC_000017.10:g.40474429_40474431dup, STAT3(NM_139276.2):c.1971_1973dup)

Individual ID 00079932
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.40474429_40474431dup
DNA change (hg38) g.42322411_42322413dup
Published as 1971_1972insTAT
ISCN -
DB-ID STAT3_000003
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 10:06:19 +02:00 (CEST)
Date last edited 2020-07-13 13:56:15 +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.1971_1973dup r.(?) p.(Tyr657_Lys658insAsn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080011 DNA ? - - STAT3 1 Jelena Čalyševa