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Variant : CV244135 (Single allele) Homo sapiens

Symbol: CV244135
Name: Single allele
Condition: Spondylocostal dysostosis 5 [RCV000235056]
Clinical Significance: pathogenic
Last Evaluated: 11/15/2015
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: ALDOA   ASPHD1   C16orf54   C16orf92   CDIPT   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   MAPK3   MAZ   MVP   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SPN   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing|research
Human AssemblyChrPosition (strand)Source
GRCh371629,651,599 - 30,199,709CLINVAR
Cytogenetic Map1616p11.2CLINVAR
Trait Synonyms: Costovertebral segmentation anomalies; SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES; Spondylocostal dysostosis 4 autosomal dominant; Spondylocostal dysplasia dominant form

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11523008
Created: 2016-08-09
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.