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 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Ralph Roeth
Database submission license No license selected
Created by Ralph Roeth
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Function/GVS     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     

Predict/CADD     
SHOX NM_000451.3 -/. 5'UTR 1 c.-680G>T r.(=) p.(=) - -
SHOX NM_006883.2 -/. 5'UTR 1 c.-680G>T r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115913 DNA SEQ - - SHOX 1 Ralph Roeth