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Variant : CV81086 (NM_003735.2(PCDHGA12):c.1619C>T (p.Pro540Leu)) Homo sapiens

Symbol: CV81086
Name: NM_003735.2(PCDHGA12):c.1619C>T (p.Pro540Leu)
Condition: Malignant melanoma [RCV000061164]
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  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: missense|intron|missense variant|intron variant
Evidence: literature only|not provided
HGVS Name(s): NC_000005.8:g.140792129C>T
NM_032094.1:c.1619C>T
NM_003735.2:c.1619C>T
NM_032092.1:c.1878+9273C>T
NM_018925.2:c.2397+31854C>T
NM_003736.2:c.2397+42097C>T
NM_018922.2:c.2410-62429C>T
NM_018926.2:c.2418+21758C>T
NM_018923.2:c.2422-62429C>T
NM_018912.2:c.2422-62429C>T
NM_018918.2:c.2422-62429C>T
NM_018921.2:c.2424+27002C>T
NM_032088.1:c.2424+37141C>T
NM_018919.2:c.2424+55871C>T
NM_018916.3:c.2425-62429C>T
NM_018914.2:c.2433+8718C>T
NM_018913.2:c.2436+16767C>T
NC_000005.10:g.141432378C>T
NC_000005.9:g.140811945C>T
NR_001297.1:c.1973+d4120C>T
NP_003726.1:p.Pro540Leu
NP_115265.1:p.Pro540Leu
NM_018927.3:c.2415+12104C>T
NM_018920.3:c.2424+47055C>T
NM_018915.3:c.2425-62429C>T
NM_018917.3:c.2515-62429C>T
NM_018927.2:c.2415+12104C>T
NM_018917.2:c.2422-62429C>T
NM_018920.2:c.2424+47055C>T
NM_018915.2:c.2425-62429C>T
NM_018924.2:c.2415+59569C>T
NM_018924.4:c.2415+59569C>T
NM_018924.3:c.2415+59569C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,432,378 - 141,432,378CLINVAR
GRCh375140,811,945 - 140,811,945CLINVAR
Build 365140,792,129 - 140,792,129CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8657749
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.