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Variant : CV86649 (NM_018923.2(PCDHGB2):c.2246C>T (p.Pro749Leu)) Homo sapiens

Symbol: CV86649
Name: NM_018923.2(PCDHGB2):c.2246C>T (p.Pro749Leu)
Condition: Malignant melanoma [RCV000066740]
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  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|intron|intron variant|missense variant
Evidence: literature only|not provided
HGVS Name(s): NC_000005.8:g.140722132C>T
NM_018923.2:c.2246C>T
NM_032096.1:c.2246C>T
NM_018922.2:c.2409+9712C>T
NM_018912.2:c.2421+29276C>T
NM_018916.3:c.2424+15924C>T
NC_000005.10:g.141362381C>T
NC_000005.9:g.140741948C>T
NM_032053.1:c.*66+d4652C>T
NM_018918.2:c.1-u1950C>T
NM_032054.1:c.1-u1950C>T
NP_061746.1:p.Pro749Leu
NP_115267.1:p.Pro749Leu
NM_018918.2:c.-1950C>T
NM_032054.1:c.-1950C>T
NM_018915.3:c.2424+20986C>T
NM_018917.3:c.2514+4760C>T
NM_018917.2:c.2421+4760C>T
NM_018915.2:c.2424+20986C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,362,381 - 141,362,381CLINVAR
GRCh375140,741,948 - 140,741,948CLINVAR
Build 365140,722,132 - 140,722,132CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8657783
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.