Variant #0000533533 (NC_000008.10:g.110099864A>G, TRHR(NM_003301.5):c.123A>G)

Chromosome 8
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.110099864A>G
DNA change (hg38) g.109087635A>G
Published as TRHR(NM_003301.5):c.123A>G (p.V41=)
ISCN -
DB-ID TRHR_000005
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) 0.00208 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRHR NM_003301.5 -/. - c.123A>G r.(?) p.(Val41=)