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Variant : CV92854 (NM_001303508.1(ISX):c.688C>T (p.Leu230Phe)) Homo sapiens

Symbol: CV92854
Name: NM_001303508.1(ISX):c.688C>T (p.Leu230Phe)
Condition: Malignant melanoma [RCV000072952]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: ISX  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NC_000022.9:g.33811636C>T
NC_000022.11:g.35085643C>T
NC_000022.10:g.35481636C>T
NM_001303508.1:c.688C>T
NP_001290437.1:p.Leu230Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh382235,085,643 - 35,085,643CLINVAR
GRCh372235,481,636 - 35,481,636CLINVAR
Build 362233,811,636 - 33,811,636CLINVAR
Cytogenetic Map2222q12.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8637628
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.