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Variant : CV622786 (NM_145343.2(APOL1):c.1024A>G (p.Ile342Val)) Homo sapiens

Symbol: CV622786
Name: NM_145343.2(APOL1):c.1024A>G (p.Ile342Val)
Condition: Focal segmental glomerulosclerosis 4, susceptibility to [RCV000785823]
Clinical Significance: risk factor
Last Evaluated: 02/27/2015
Review Status: criteria provided, single submitter
Related Genes: APOL1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.36265812A>G
LRG_169p1:p.Ile342Val
NP_663318.1:p.Ile342Val
LRG_169t1:c.1024A>G
LRG_169:g.17742A>G
NG_023228.1:g.17742A>G
NC_000022.10:g.36661858A>G
NM_001136541.1:c.922A>G
NM_001362927.2:c.922A>G
NM_001136540.1:c.976A>G
NM_003661.4:c.976A>G
NP_001130013.1:p.Ile308Val
NP_001349856.1:p.Ile308Val
NP_001130012.1:p.Ile326Val
NP_003652.2:p.Ile326Val
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,265,812 - 36,265,812CLINVAR
GRCh372236,661,858 - 36,661,858CLINVAR
Cytogenetic Map2222q12.3CLINVAR
Trait Synonyms: END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14695603
Created: 2019-07-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.