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Variant : CV93068 (NM_002367.3(MAGEB4):c.601C>T (p.Leu201=)) Homo sapiens

Symbol: CV93068
Name: NM_002367.3(MAGEB4):c.601C>T (p.Leu201=)
Condition: Malignant melanoma [RCV000073166]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: MAGEB1   MAGEB4  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: neargene-5|2kb upstream variant|synonymous variant
Evidence: literature only|not provided
HGVS Name(s): NM_002363.4:c.-1315C>T
NM_002367.3:c.601C>T
NG_016336.1:g.4006C>T
NG_015870.1:g.5797C>T
NC_000023.11:g.30242736C>T
NC_000023.10:g.30260853C>T
NM_002363.3:c.-320-u995C>T
NM_177404.1:c.-163-u4418C>T
NM_177415.1:c.-237-u995C>T
NM_002363.4:c.-320-u995C>T
NM_177415.2:c.-237-u995C>T
NM_177404.2:c.-163-u4418C>T
NM_002367.2:c.601C>T
NP_002358.1:p.Leu201=
NM_177415.2:c.-1232C>T
NC_000023.9:g.30170774C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X30,242,736 - 30,242,736CLINVAR
GRCh37X30,260,853 - 30,260,853CLINVAR
Build 36X30,170,774 - 30,170,774CLINVAR
Cytogenetic MapXXp21.2CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8637842
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.