Variant #0000186391 (NC_000023.10:g.(?_585079)_(595562_601555)del, SHOX(NM_006883.2):c.(?_-691)_(486+1_487-1)del)

Individual ID 00115517
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_585079)_(595562_601555)del
DNA change (hg38) -
Published as del ex1-3
ISCN -
DB-ID SHOX_001297
Variant remarks -
Reference PubMed: Bunyan 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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 +/. - _1_3i c.(?_-691)_(486+1_487-1)del r.0 p.0 - -
SHOX NM_006883.2 +/. - _1_3i c.(?_-691)_(486+1_487-1)del r.0 p.0 - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115974 DNA SEQ;MLPA;PCR - - - 1 Johan den Dunnen