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Variant : CV86513 (NM_181836.5(TMED7):c.486C>T (p.Ile162=)) Homo sapiens

Symbol: CV86513
Name: NM_181836.5(TMED7):c.486C>T (p.Ile162=)
Condition: Malignant melanoma [RCV000066604]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: TICAM2   TMED7   TMED7-TICAM2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: synonymous variant|intron|intron variant
Evidence: literature only|not provided
HGVS Name(s): NC_000005.8:g.114979994G>A
NM_181836.5:c.486C>T
NC_000005.10:g.115616398G>A
NC_000005.9:g.114952095G>A
NM_021649.3:c.-140C>T
XM_001715088.1:c.*61-3670G>A
NM_181836.3:c.486C>T
NM_001164468.1:c.486C>T
NM_001164469.1:c.486C>T
NP_001157940.1:p.Ile162=
NP_001157941.1:p.Ile162=
NP_861974.1:p.Ile162=
NM_001164468.3:c.486C>T
NM_001164469.3:c.486C>T
NM_001164468.2:c.486C>T
NM_001164469.2:c.486C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh385115,616,398 - 115,616,398CLINVAR
GRCh375114,952,095 - 114,952,095CLINVAR
Build 365114,979,994 - 114,979,994CLINVAR
Cytogenetic Map55q22.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8631352
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.