Variant #0000618989 (NC_000023.10:g.12906675A>C, TLR7(NM_016562.3):c.3048A>C)

Chromosome X
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.12906675A>C
DNA change (hg38) g.12888556A>C
Published as TLR7(NM_016562.3):c.3048A>C (p.P1016=)
ISCN -
DB-ID TLR7_000018
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) 0.00039 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TLR7 NM_016562.3 -?/. - c.3048A>C r.(?) p.(Pro1016=)