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Variant : CV437714 (NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del) Homo sapiens

Symbol: CV437714
Name: NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del
Condition: Congenital adrenal hypoplasia, X-linked [RCV000513432]
Clinical Significance: pathogenic
Last Evaluated: 10/16/2017
Review Status: criteria provided, single submitter
Related Genes: CXorf21   DMD   FTHL17   GK   MAGEB1   MAGEB2   MAGEB3   MAGEB4   NR0B1   TAB3   TAB3-AS1  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X30,064,519 - 31,178,619CLINVAR
GRCh37X30,082,636 - 31,196,736CLINVAR
Cytogenetic MapXXp21.2CLINVAR
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: 13446220
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.