Variant #0000528031 (NC_000006.11:g.170871037_170871039del, TBP(NM_001172085.1):c.153_155del)

Chromosome 6
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.170871037_170871039del
DNA change (hg38) g.170561949_170561951del
Published as TBP(NM_003194.4):c.213_215delGCA (p.Q95del)
ISCN -
DB-ID TBP_000021
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBP NM_001172085.1 -/. - c.153_155del r.(?) p.(Gln75del)
TBP NM_003194.4 -/. - c.213_215del r.(?) p.(Gln95del)