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Variant : CV93067 (NM_002367.3(MAGEB4):c.142G>A (p.Asp48Asn)) Homo sapiens

Symbol: CV93067
Name: NM_002367.3(MAGEB4):c.142G>A (p.Asp48Asn)
Condition: Malignant melanoma [RCV000073165]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: MAGEB1   MAGEB3   MAGEB4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: neargene-5|missense variant|2kb upstream variant
Evidence: literature only|not provided
HGVS Name(s): NM_002363.4:c.-1774G>A
NM_002367.3:c.142G>A
NG_016336.1:g.3547G>A
NG_015870.1:g.5338G>A
NC_000023.11:g.30242277G>A
NC_000023.10:g.30260394G>A
NM_002365.3:c.*525+d4787G>A
NM_002365.4:c.*528+d4784G>A
NM_002363.3:c.-320-u1454G>A
NM_177404.1:c.-163-u4877G>A
NM_177415.1:c.-237-u1454G>A
NM_002363.4:c.-320-u1454G>A
NM_177415.2:c.-237-u1454G>A
NM_177404.2:c.-163-u4877G>A
NM_002367.2:c.142G>A
NP_002358.1:p.Asp48Asn
NM_177415.2:c.-1691G>A
NC_000023.9:g.30170315G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X30,242,277 - 30,242,277CLINVAR
GRCh37X30,260,394 - 30,260,394CLINVAR
Build 36X30,170,315 - 30,170,315CLINVAR
Cytogenetic MapXXp21.2CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8637841
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.