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Variant : CV90666 (NM_016642.3(SPTBN5):c.6212C>T (p.Ser2071Phe)) Homo sapiens

Symbol: CV90666
Name: NM_016642.3(SPTBN5):c.6212C>T (p.Ser2071Phe)
Condition: Malignant melanoma [RCV000070764]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: SPTBN5  
Variant Type: single nucleotide variant (SO:0001636)
Source: CLINVAR
Molecular Consequence: missense|missense variant|2kb upstream variant
Evidence: literature only|not provided
HGVS Name(s): NC_000015.8:g.39947128G>A
NC_000015.10:g.41867638G>A
NC_000015.9:g.42159836G>A
NM_016642.3:c.6212C>T
NP_057726.4:p.Ser2071Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh381541,867,638 - 41,867,638CLINVAR
GRCh371542,159,836 - 42,159,836CLINVAR
Build 361539,947,128 - 39,947,128CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8635445
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.