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 4 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 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.-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