Variant #0000608471 (NC_000003.11:g.24164475C>T, THRB(NM_000461.4):c.1286G>A)

Chromosome 3
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.24164475C>T
DNA change (hg38) g.24122984C>T
Published as THRB(NM_001252634.2):c.1286G>A (p.R429Q)
ISCN -
DB-ID THRB_000010
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) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license No license selected
Created by VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
THRB NM_000461.4 +?/. - c.1286G>A r.(?) p.(Arg429Gln)