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Single allele AND Spondylocostal dysostosis 5

Significance: Pathogenic
ClinVar: RCV000235056

Variant: Single allele

Type: Variant
Allele: 16p11.2recurrentdeletion 244135
Gene:
Type: Deletion
Location: Chr16: 29651599 - 30199709 - assembly GRCh37

Condition

Disease: Spondylocostal dysostosis 5