Variant #0000509742 (NC_000002.11:g.162280307G>C, TBR1(NM_006593.2):c.1618G>C)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.162280307G>C
DNA change (hg38) g.161423796G>C
Published as TBR1(NM_006593.2):c.1618G>C (p.(Ala540Pro))
ISCN -
DB-ID TBR1_000012
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) 2.0E-5 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBR1 NM_006593.2 -?/. - c.1618G>C r.(?) p.(Ala540Pro)