Variant #0000132604 (NC_000017.10:g.40474482T>A, STAT3(NM_139276.2):c.1919A>T)

Individual ID 00081771
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.40474482T>A
DNA change (hg38) g.42322464T>A
Published as -
ISCN -
DB-ID STAT3_000012 See all 8 reported entries
Variant remarks -
Reference PubMed: Pilati 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-10-22 16:33:40 +02:00 (CEST)
Date last edited 2019-07-27 11:49:25 +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.1919A>T r.(?) p.(Tyr640Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081901 DNA SEQ - - STAT3 1 Johan den Dunnen