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Variant : CV614100 (GRCh37/hg19 Xq23(chrX:113097589-114931342)) Homo sapiens

Symbol: CV614100
Name: GRCh37/hg19 Xq23(chrX:113097589-114931342)
Condition: Bone mineral density quantitative trait locus 18 [RCV000767804]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: HTR2C   IL13RA2   LRCH2   LUZP4   MIR448   PLS3   RBMXL3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X113,097,589 - 114,931,342CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: OSTEOPOROSIS AND OSTEOPOROTIC FRACTURES, SUSCEPTIBILITY TO



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14399754
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2019-09-06
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.