Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV93099 (NM_004182.3(UXT):c.234C>T (p.Phe78=)) Homo sapiens

Symbol: CV93099
Name: NM_004182.3(UXT):c.234C>T (p.Phe78=)
Condition: Malignant melanoma [RCV000073197]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: UXT   UXT-AS1  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|non-coding transcript variant|synonymous variant
Evidence: literature only|not provided
HGVS Name(s): NC_000023.11:g.47657586G>A
NC_000023.10:g.47516985G>A
NR_028119.1:c.1-u1247G>A
NM_004182.3:c.234C>T
NM_153477.2:c.270C>T
NM_004182.2:c.234C>T
NM_153477.1:c.270C>T
NP_004173.1:p.Phe78=
NP_705582.1:p.Phe90=
NR_028119.1:n.-1247G>A
NC_000023.9:g.47401929G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X47,657,586 - 47,657,586CLINVAR
GRCh37X47,516,985 - 47,516,985CLINVAR
Build 36X47,401,929 - 47,401,929CLINVAR
Cytogenetic MapXXp11.23CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8637873
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2015-08-04
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.