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Variant : CV86646 (NM_018917.3(PCDHGA4):c.2340C>T (p.Phe780=)) Homo sapiens

Symbol: CV86646
Name: NM_018917.3(PCDHGA4):c.2340C>T (p.Phe780=)
Condition: Malignant melanoma [RCV000066737]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PCDHG@   PCDHGA1   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGB1   PCDHGB2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|synonymous variant|intron variant
Evidence: literature only|not provided
HGVS Name(s): NC_000005.8:g.140717198C>T
NM_018922.2:c.2409+4778C>T
NM_018912.2:c.2421+24342C>T
NM_018916.3:c.2424+10990C>T
NC_000005.10:g.141357447C>T
NC_000005.9:g.140737014C>T
NM_018923.2:c.1-u2689C>T
NM_032096.1:c.1-u2689C>T
NM_032095.1:c.2433+d4754C>T
NM_018917.3:c.2340C>T
NM_032053.2:c.2340C>T
NM_018915.3:c.2424+16052C>T
NM_018917.2:c.2247C>T
NM_032053.1:c.2247C>T
NM_018915.2:c.2424+16052C>T
NP_061740.1:p.Phe749Phe=
NP_114442.1:p.Phe749Phe=
NP_114442.2:p.Phe780=
NP_061740.2:p.Phe780=
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,357,447 - 141,357,447CLINVAR
GRCh375140,737,014 - 140,737,014CLINVAR
Build 365140,717,198 - 140,717,198CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8657780
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.