Variant #0000186326 (NC_000023.10:g.585090G>T, SHOX(NM_006883.2):c.-680G>T)
Individual ID |
00115456 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.585090G>T |
DNA change (hg38) |
g.624355G>T |
Published as |
- |
ISCN |
- |
DB-ID |
SHOX_000216 See all 4 reported entries |
Variant remarks |
22/168 control alleles |
Reference |
PubMed: Roman Solc 2014 |
ClinVar ID |
- |
dbSNP ID |
rs3813940 |
Origin |
Germline |
Segregation |
- |
Frequency |
12/45 patients |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Ralph Roeth |
Database submission license |
No license selected |
Created by |
Ralph Roeth |

Variant on transcripts
Screenings
|
|