Variant #0000518941 (NC_000003.11:g.24231684G>A, THRB(NM_000461.4):c.164C>T)

Chromosome 3
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.24231684G>A
DNA change (hg38) g.24190193G>A
Published as THRB(NM_001252634.1):c.164C>T (p.S55L)
ISCN -
DB-ID THRB_000007
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) 1.0E-5 View details
Owner VKGL-NL_Utrecht
Database submission license No license selected
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
THRB NM_000461.4 -?/. - c.164C>T r.(?) p.(Ser55Leu)