Variant #0000676058 (NC_000002.11:g.162280277_162280283dup, TBR1(NM_006593.2):c.1588_1594dup)

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) -
Published as TBR1(NM_006593.3):c.1588_1594dupGGCTGCA (p.T532Rfs*144)
ISCN -
DB-ID TBR1_000002 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBR1 NM_006593.2 +?/. - c.1588_1594dup r.(?) p.(Thr532ArgfsTer144)