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Variant : CV437713 (NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del) Homo sapiens

Symbol: CV437713
Name: NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del
Condition: Congenital adrenal hypoplasia, X-linked [RCV000513148]
Clinical Significance: pathogenic
Last Evaluated: 10/16/2017
Review Status: criteria provided, single submitter
Related Genes: CXorf21   IL1RAPL1   MAGEB1   MAGEB2   MAGEB3   MAGEB4   MIR4666B   NR0B1  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X29,955,053 - 30,309,388CLINVAR
GRCh37X29,973,170 - 30,327,505CLINVAR
Cytogenetic MapXXp21.3-21.2CLINVAR
Trait Synonyms: ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM; Isolated X-Linked Adrenal Hypoplasia Congenita



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13446005
Created: 2017-11-07
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.