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Variant : CV86655 (NM_014004.2(PCDHGA8):c.2079C>T (p.Leu693=)) Homo sapiens

Symbol: CV86655
Name: NM_014004.2(PCDHGA8):c.2079C>T (p.Leu693=)
Condition: Malignant melanoma [RCV000066746]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PCDHG@   PCDHGA1   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGA7   PCDHGA8   PCDHGB1   PCDHGB2   PCDHGB3   PCDHGB4   PCDHGB5  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: intron|synonymous variant|intron variant
Evidence: literature only|not provided
HGVS Name(s): NC_000005.8:g.140754643C>T
NM_018924.2:c.2415+22083C>T
NM_014004.2:c.2079C>T
NM_032088.1:c.2079C>T
NM_003736.2:c.2397+4611C>T
NM_018922.2:c.2409+42223C>T
NM_018918.2:c.2421+28141C>T
NM_018923.2:c.2421+32336C>T
NM_018912.2:c.2421+61787C>T
NM_018919.2:c.2424+18385C>T
NM_018916.3:c.2424+48435C>T
NC_000005.10:g.141394892C>T
NC_000005.9:g.140774459C>T
NM_032098.1:c.2412+d4596C>T
NM_018925.2:c.1-u3236C>T
NM_032099.1:c.1-u3236C>T
NP_054723.1:p.Leu693=
NP_114477.1:p.Leu693=
NM_018915.3:c.2424+53497C>T
NM_018920.3:c.2424+9569C>T
NM_018917.3:c.2514+37271C>T
NM_018917.2:c.2421+37271C>T
NM_018915.2:c.2424+53497C>T
NM_018920.2:c.2424+9569C>T
NM_018924.4:c.2415+22083C>T
NM_018924.3:c.2415+22083C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,394,892 - 141,394,892CLINVAR
GRCh375140,774,459 - 140,774,459CLINVAR
Build 365140,754,643 - 140,754,643CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8658682
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.