Variant #0000001408 (NC_000017.11:g.42329511G>C, NC_000017.11(NM_139276.2):c.1233+43C>G (STAT3))

Individual ID 00000295
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.42329511G>C
Published as -
Reference L H Lian et al. (2013), dbSNP
DB-ID STAT3_000001 See all 2 reported entries
dbSNP ID rs2293152
Frequency 41/80
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-22 15:24:15 +08:00 (CST)
Date last edited 2021-08-29 14:26:47 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
STAT3 NM_139276.2 +/. - c.1233+43C>G - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000310 DNA PCR STAT3 2 Nuur Athirah Binti Mohd Daud