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Variant : CV363630 (NM_000061.2(BTK):c.121G>A (p.Glu41Lys)) Homo sapiens

Symbol: CV363630
Name: NM_000061.2(BTK):c.121G>A (p.Glu41Lys)
Condition: Agammaglobulinemia [RCV000439020]
Clinical Significance: likely pathogenic
Last Evaluated: 05/13/2016
Review Status: no assertion criteria provided
Related Genes: BTK  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): LRG_128t1:c.121G>A
NM_000061.2:c.121G>A
LRG_128:g.16061G>A
NG_009616.1:g.16061G>A
NC_000023.11:g.101375164C>T
NC_000023.10:g.100630152C>T
LRG_128p1:p.Glu41Lys
NP_000052.1:p.Glu41Lys
NM_001287345.1:c.121G>A
NM_001287344.1:c.223G>A
NP_001274274.1:p.Glu41Lys
NP_001274273.1:p.Glu75Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh38X101,375,164 - 101,375,164CLINVAR
GRCh37X100,630,152 - 100,630,152CLINVAR
Cytogenetic MapXXq22.1CLINVAR
Trait Synonyms: Agammaglobulinaemia



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12845002
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-02-11
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.