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Variant : CV86658 (NM_018929.2(PCDHGC5):c.2080C>T (p.Leu694Phe)) Homo sapiens

Symbol: CV86658
Name: NM_018929.2(PCDHGC5):c.2080C>T (p.Leu694Phe)
Condition: Malignant melanoma [RCV000066749]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PCDHG@   PCDHGA1   PCDHGA10   PCDHGA11   PCDHGA12   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGA7   PCDHGA8   PCDHGA9   PCDHGB1   PCDHGB2   PCDHGB3   PCDHGB4   PCDHGB5   PCDHGB6   PCDHGB7   PCDHGC3   PCDHGC4   PCDHGC5  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|intron variant
Evidence: literature only|not provided
HGVS Name(s): NC_000005.8:g.140851071C>T
NM_018924.2:c.2416-3487C>T
NM_032092.1:c.1879-3487C>T
NM_018929.2:c.2080C>T
NM_032407.1:c.2080C>T
NM_018925.2:c.2398-3487C>T
NM_003736.2:c.2398-3487C>T
NM_018922.2:c.2410-3487C>T
NM_018927.3:c.2416-3487C>T
NM_018926.2:c.2419-3487C>T
NM_018923.2:c.2422-3487C>T
NM_018918.2:c.2422-3487C>T
NM_018912.2:c.2422-3487C>T
NM_018919.2:c.2425-3487C>T
NM_018916.3:c.2425-3487C>T
NM_003735.2:c.2425-3487C>T
NM_032088.1:c.2425-3487C>T
NM_018921.2:c.2425-3487C>T
NM_018914.2:c.2434-3487C>T
NM_018913.2:c.2437-3487C>T
NM_018928.2:c.2443-3487C>T
NC_000005.10:g.141491320C>T
NC_000005.9:g.140870887C>T
NM_032406.1:c.2616+d3531C>T
NM_018927.2:c.2416-3487C>T
NP_061752.1:p.Leu694Phe
NP_115783.1:p.Leu694Phe
NM_018920.3:c.2425-3487C>T
NM_018915.3:c.2425-3487C>T
NM_002588.3:c.2431-3487C>T
NM_018917.3:c.2515-3487C>T
NM_032403.2:c.31-3487C>T
NM_018917.2:c.2422-3487C>T
NM_018915.2:c.2425-3487C>T
NM_018920.2:c.2425-3487C>T
NM_002588.2:c.2431-3487C>T
NM_032403.1:c.31-3487C>T
NM_018924.4:c.2416-3487C>T
NM_018924.3:c.2416-3487C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,491,320 - 141,491,320CLINVAR
GRCh375140,870,887 - 140,870,887CLINVAR
Build 365140,851,071 - 140,851,071CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8657789
Created: 2014-06-10
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.