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 International |
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) |

Variant on transcripts
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