Full data view for gene SHOX

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

2 entries on 1 page. Showing entries 1 - 2.
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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.-636del r.(=) p.(=) - - Unknown - VUS g.585134del g.624399del c.-637delT - SHOX_000362 - - - rs72246778 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 5'UTR 1 c.-636del r.(=) p.(=) - - Unknown - VUS g.585134del g.624399del - - SHOX_000362 - - - rs55872554 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
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