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Variant : CV86651 (NM_018918.2(PCDHGA5):c.2337C>T (p.Leu779=)) Homo sapiens

Symbol: CV86651
Name: NM_018918.2(PCDHGA5):c.2337C>T (p.Leu779=)
Condition: Malignant melanoma [RCV000066742]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PCDHG@   PCDHGA1   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGB1   PCDHGB2   PCDHGB3  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: intron|intron variant|synonymous variant
Evidence: literature only|not provided
HGVS Name(s): NC_000005.8:g.140726418C>T
NM_018918.2:c.2337C>T
NM_032054.1:c.2337C>T
NM_018922.2:c.2409+13998C>T
NM_018912.2:c.2421+33562C>T
NM_018923.2:c.2421+4111C>T
NM_018916.3:c.2424+20210C>T
NC_000005.10:g.141366667C>T
NC_000005.9:g.140746234C>T
NM_018924.2:c.1-u3728C>T
NM_032097.1:c.1-u3728C>T
NM_032096.1:c.2436+d4096C>T
NP_061741.1:p.Leu779=
NP_114443.1:p.Leu779=
NM_018915.3:c.2424+25272C>T
NM_018917.3:c.2514+9046C>T
NM_018917.2:c.2421+9046C>T
NM_018915.2:c.2424+25272C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,366,667 - 141,366,667CLINVAR
GRCh375140,746,234 - 140,746,234CLINVAR
Build 365140,726,418 - 140,726,418CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8657785
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.