Variant #0001047485 (NC_000023.10:g.12905147T>C, NM_016562.3:c.1520T>C (TLR7))

Individual ID 00466364
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.12905147T>C
DNA change (hg38) g.12887028T>C
Published as -
ISCN -
DB-ID TLR7_000028
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nima Parvaneh
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Nima Parvaneh
Date created 2025-08-24 17:01:08 +02:00 (CEST)
Date last edited 2025-08-26 15:44:07 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TLR7 NM_016562.3 +/. - c.1520T>C r.(?) p.(Phe507Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000468025 RNA SEQ-NG-I Blood - TLR7 1 Nima Parvaneh


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