Variant #0000040390 (NC_000002.11:g.162280277_162280283dup, TBR1(NM_006593.2):c.1588_1594dup)

Individual ID 00019910
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.162280277_162280283dup
DNA change (hg38) g.161423766_161423772dup
Published as -
ISCN -
DB-ID TBR1_000002 See all 3 reported entries
Variant remarks -
Reference PubMed: Gilissen 2014
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marianne Vos (LOVD-team)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBR1 NM_006593.2 +/. 6 c.1588_1594dup r.(?) p.(Thr532Argfs*144)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019902 DNA SEQ - - CREBL2, TBR1 2 Marianne Vos (LOVD-team)