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Variant : CV80210 (NM_003048.4(SLC9A2):c.1419C>T (p.Phe473=)) Homo sapiens

Symbol: CV80210
Name: NM_003048.4(SLC9A2):c.1419C>T (p.Phe473=)
Condition: Malignant melanoma [RCV000060286]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: SLC9A2  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: literature only|not provided
HGVS Name(s): NC_000002.12:g.102684330C>T
NC_000002.11:g.103300789C>T
NP_003039.2:p.Phe473=
NC_000002.10:g.102667221C>T
NM_003048.4:c.1419C>T
NM_003048.3:c.1419C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382102,684,330 - 102,684,330CLINVAR
GRCh372103,300,789 - 103,300,789CLINVAR
Build 362102,667,221 - 102,667,221CLINVAR
Cytogenetic Map22q12.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8625091
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.