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Variant : CV39654 (NM_001165967.2(HES7):c.571G>T (p.Asp191Tyr)) Homo sapiens

Symbol: CV39654
Name: NM_001165967.2(HES7):c.571G>T (p.Asp191Tyr)
Condition: Spondylocostal dysostosis 5 [RCV000023675]
Clinical Significance: pathogenic
Last Evaluated: 03/09/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: HES7  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only
HGVS Name(s): NG_015807.1:g.2224G>T
NG_015816.1:g.7400G>T
NC_000017.11:g.8121693C>A
NC_000017.10:g.8025011C>A
NP_115969.2:p.Asp186Tyr
Q9BYE0:p.Asp186Tyr
NM_032580.4:c.556G>T
NM_001165967.2:c.571G>T
NP_001159439.1:p.Asp191Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,121,693 - 8,121,693CLINVAR
GRCh37178,025,011 - 8,025,011CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8602302
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.