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Variant : CV257665 (NM_000631.5(NCF4):c.735C>T (p.Tyr245=)) Homo sapiens

Symbol: CV257665
Name: NM_000631.5(NCF4):c.735C>T (p.Tyr245=)
Condition: Chronic granulomatous disease [RCV000316507]|not specified [RCV000250195]
Clinical Significance: benign|likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: NCF4  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_159t1:c.735C>T
LRG_159:g.19773C>T
NG_023400.1:g.19773C>T
NC_000022.11:g.36875760C>T
NC_000022.10:g.37271802C>T
LRG_159p1:p.Tyr245=
NP_038202.2:p.Tyr245=
p.Tyr245Tyr
NP_000622.2:p.Tyr245=
NM_013416.3:c.735C>T
NM_000631.5:c.735C>T
NM_000631.4:c.735C>T
NM_013416.3:c.735C>T
NP_038202.2:p.Tyr245=
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,875,760 - 36,875,760CLINVAR
GRCh372237,271,802 - 37,271,802CLINVAR
Cytogenetic Map2222q12.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11549274
Created: 2016-10-11
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.