Variant #0000518940 (NC_000003.11:g.24184995G>A, THRB(NM_000461.4):c.735C>T)

Chromosome 3
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.24184995G>A
DNA change (hg38) g.24143504G>A
Published as THRB(NM_001252634.1):c.735C>T (p.F245=), THRB(NM_001252634.2):c.735C>T (p.F245=)
ISCN -
DB-ID THRB_000006 See all 2 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 (gnomAD v.2.1.1) 0.15549 View details
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
THRB NM_000461.4 -/. - c.735C>T r.(?) p.(Phe245=)