Variant #0000223224 (NC_000002.11:g.162280277_162280283dup, TBR1(NM_006593.2):c.1588_1594dup)

Individual ID 00132962
Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.162280277_162280283dup
DNA change (hg38) g.161423766_161423772dup
Published as g.162280263_162280264insGCTGCAG; 1574_1575insGCTGCAG
ISCN -
DB-ID TBR1_000002 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner IMGAG
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBR1 NM_006593.2 +?/. - c.1588_1594dup r.(?) p.(Thr532Argfs*144)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133796 DNA SEQ - - - 1 IMGAG