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
Options




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