Full data view for gene SHOX

Information The variants shown are described using the transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Effect     

Function/GVS     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Predict/CADD     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 5'UTR 1 c.-512C>A r.(=) p.(=) - - Unknown - VUS g.585258C>A g.624523C>A - - SHOX_000365 - - - rs113313554 Germline - - -FauI 0 - - - - - - - - - - - - - - - - - - -
?/? 5'UTR 1 c.-512C>A r.(=) p.(=) - - Unknown - VUS g.585258C>A g.624523C>A - - SHOX_000365 4/168 control alleles PubMed: Roman Solc 2014 - rs113313554 Germline - 1/45 patients -FauI 0 - DNA SEQ - - ISS - PubMed: Roman Solc 2014 - - - Czech Republic - - 0 - - 1 Ralph Roeth
-?/. - - c.-512C>A r.(?) p.(=) - - Unknown - likely benign g.585258C>A - SHOX(NM_000451.3):c.-512C>A - SHOX_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query