Variant #0000393520 (NC_000023.10:g.12904662G>A, TLR7(NM_016562.3):c.1035G>A)

Individual ID 00172778
Chromosome X
Allele Parent #1
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.12904662G>A
DNA change (hg38) g.12886543G>A
Published as L345L
ISCN -
DB-ID TLR7_000012
Variant remarks recurrent, found 3 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 3/208 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0149 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TLR7 NM_016562.3 -?/. - c.1035G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173661 DNA SEQ - - ARMCX1 1 Lucy Raymond