Full data view for gene SHOX

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

4 entries on 1 page. Showing entries 1 - 4.
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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.-680G>T r.(=) p.(=) - - Unknown - benign g.585090G>T g.624355G>T - - SHOX_000216 - - - rs3813940 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 5'UTR 1 c.-680G>T r.(=) p.(=) - - Unknown - benign g.585090G>T g.624355G>T - - SHOX_000216 4/20 control alleles SHOX Lab Heidelberg, unpublished - rs3813940 Germline - 27/52 patients - 0 - DNA SEQ - - LWD - SHOX Lab Heidelberg, unpublished - - - France;Germany;Italy;Sweden;Croatia (Hrvatska) white - 0 - - 27 Ralph Roeth
-/. 5'UTR 1 c.-680G>T r.(=) p.(=) - - Unknown - benign g.585090G>T g.624355G>T - - SHOX_000216 22/168 control alleles PubMed: Roman Solc 2014 - rs3813940 Germline - 12/45 patients - 0 - DNA SEQ - - ISS - PubMed: Roman Solc 2014 - - - Czech Republic - - 0 - - 12 Ralph Roeth
-/. - - c.-680G>T r.(?) p.(=) - - Unknown - benign g.585090G>T - - - SHOX_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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