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Variant : CV205806 (NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del) Homo sapiens

Symbol: CV205806
Name: NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del
Condition: Bone mineral density quantitative trait locus 18 [RCV000191154]
Clinical Significance: pathogenic
Last Evaluated: 11/05/2014
Review Status: criteria provided, single submitter
Related Genes: HTR2C   IL13RA2   LRCH2   LUZP4   MIR448   PLS3   RBMXL3  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del
Position
Human AssemblyChrPosition (strand)Source
GRCh37X113,097,589 - 114,931,342CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: OSTEOPOROSIS AND OSTEOPOROTIC FRACTURES, SUSCEPTIBILITY TO
Age Of Onset: childhood
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10407795
Created: 2015-11-10
Species: Homo sapiens
Last Modified: 2019-09-10
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.