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Variant : CV25066 (NM_000206.2(IL2RG):c.664C>T (p.Arg222Cys)) Homo sapiens

Symbol: CV25066
Name: NM_000206.2(IL2RG):c.664C>T (p.Arg222Cys)
Condition: Combined immunodeficiency, X-linked [RCV000010710]|Inborn genetic diseases [RCV000622428]
Clinical Significance: pathogenic
Last Evaluated: 04/26/2017
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: IL2RG  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): LRG_150t1:c.664C>T
LRG_150:g.7233C>T
NG_009088.1:g.7233C>T
NC_000023.11:g.71109321G>A
NC_000023.10:g.70329171G>A
LRG_150p1:p.Arg222Cys
NP_000197.1:p.Arg222Cys
NM_000206.2:c.664C>T
P31785:p.Arg222Cys
NG_021141.1:g.2468C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,109,321 - 71,109,321CLINVAR
GRCh37X70,329,171 - 70,329,171CLINVAR
Cytogenetic MapXXq13.1CLINVAR
Trait Synonyms: IMMUNODEFICIENCY 6



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8598457
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-08
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.