Variant #0000186359 (NC_000023.10:g.585258C>A, SHOX(NM_006883.2):c.-512C>A)

Individual ID 00115489
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.585258C>A
DNA change (hg38) g.624523C>A
Published as -
ISCN -
DB-ID SHOX_000365 See all 3 reported entries
Variant remarks 4/168 control alleles
Reference PubMed: Roman Solc 2014
ClinVar ID -
dbSNP ID rs113313554
Origin Germline
Segregation -
Frequency 1/45 patients
Re-site -FauI
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
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.-512C>A r.(=) p.(=) - -
SHOX NM_006883.2 ?/? 5'UTR 1 c.-512C>A r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115946 DNA SEQ - - SHOX 1 Ralph Roeth