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Variant : CV802087 (GRCh37/hg19 8p23.2-23.1(chr8:2308926-6939296)x3) Homo sapiens

Symbol: CV802087
Name: GRCh37/hg19 8p23.2-23.1(chr8:2308926-6939296)x3
Condition: Short stature [RCV001004812]
Clinical Significance: likely pathogenic
Last Evaluated: 07/01/2019
Review Status: no assertion criteria provided
Related Genes: AGPAT5   ANGPT2   CSMD1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   MCPH1   XKR5  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3782,308,926 - 6,939,296CLINVAR
Cytogenetic Map88p23.2-23.1CLINVAR
Trait Synonyms: Decreased body height; Height less than 3rd percentile; Neurodevelopmental delay; Small stature; Stature below 3rd percentile

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 21404445
Created: 2020-03-10
Species: Homo sapiens
Last Modified: 2020-05-19
Status: ACTIVE


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