Variant #0000333177 (NC_000023.10:g.12904934C>T, TLR7(NM_016562.3):c.1307C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.12904934C>T
DNA change (hg38) g.12886815C>T
Published as TLR7(NM_016562.3):c.1307C>T (p.(Ser436Leu))
ISCN -
DB-ID TLR7_000003
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TLR7 NM_016562.3 ?/. - c.1307C>T r.(?) p.(Ser436Leu)