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Variant : CV352523 (NM_000631.5(NCF4):c.733T>C (p.Tyr245His)) Homo sapiens

Symbol: CV352523
Name: NM_000631.5(NCF4):c.733T>C (p.Tyr245His)
Condition: Chronic granulomatous disease [RCV000261298]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: NCF4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_159:g.19771T>C
NG_023400.1:g.19771T>C
NC_000022.11:g.36875758T>C
NC_000022.10:g.37271800T>C
LRG_159p1:p.Tyr245His
NP_038202.2:p.Tyr245His
LRG_159t1:c.733T>C
NM_013416.3:c.733T>C
NM_000631.5:c.733T>C
NP_000622.2:p.Tyr245His
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,875,758 - 36,875,758CLINVAR
GRCh372237,271,800 - 37,271,800CLINVAR
Cytogenetic Map2222q12.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11644701
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-07-28
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.