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Variant : CV22368 (NM_001138.2(AGRP):c.199G>A (p.Ala67Thr)) Homo sapiens

Symbol: CV22368
Name: NM_001138.2(AGRP):c.199G>A (p.Ala67Thr)
Condition: Leanness, inherited [RCV000007754]|Obesity, late-onset [RCV000007753]
Clinical Significance: pathogenic|association
Last Evaluated: 08/30/2019
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGRP  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|missense|missense variant
Evidence: literature only
HGVS Name(s): NG_011501.1:g.5772G>A
NC_000016.10:g.67483042C>T
NC_000016.9:g.67516945C>T
NP_001129.1:p.Ala67Thr
O00253:p.Ala67Thr
NG_011482.1:g.3145G>A
NM_001138.2:c.199G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381667,483,042 - 67,483,042CLINVAR
GRCh371667,516,945 - 67,516,945CLINVAR
Cytogenetic Map1616q22.1CLINVAR



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8597494
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.