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Variant : CV80830 (NM_000586.3(IL2):c.226C>T (p.Leu76Phe)) Homo sapiens

Symbol: CV80830
Name: NM_000586.3(IL2):c.226C>T (p.Leu76Phe)
Condition: Malignant melanoma [RCV000060907]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: IL2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NM_000586.3:c.226C>T
NG_016779.1:g.7661C>T
NC_000004.12:g.122453835G>A
NC_000004.11:g.123374990G>A
NP_000577.2:p.Leu76Phe
NC_000004.10:g.123594440G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh384122,453,835 - 122,453,835CLINVAR
GRCh374123,374,990 - 123,374,990CLINVAR
Build 364123,594,440 - 123,594,440CLINVAR
Cytogenetic Map44q27CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8625706
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2015-08-04
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.