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Variant : CV96881 (NM_001165967.2(HES7):c.400_409dup (p.Arg137fs)) Homo sapiens

Symbol: CV96881
Name: NM_001165967.2(HES7):c.400_409dup (p.Arg137fs)
Condition: Spondylocostal dysostosis 5 [RCV000076921]
Clinical Significance: pathogenic
Last Evaluated: 02/10/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: HES7  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NG_015816.1:g.7229_7238dup
NM_001165967.2:c.400_409dup
NM_001165967.1:c.400_409dup
NG_015807.1:g.2053_2062dup
NC_000017.11:g.8121861_8121870dup
NC_000017.10:g.8025179_8025188dup
NP_115969.2:p.Arg132fs
NP_001159439.1:p.Arg137fs
NM_032580.4:c.385_394dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,121,854 - 8,121,855CLINVAR
GRCh37178,025,172 - 8,025,173CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Costovertebral segmentation anomalies; SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES; Spondylocostal dysostosis 4 autosomal dominant; Spondylocostal dysplasia dominant form



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8639102
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-29
Status: ACTIVE



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