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Variant : CV86647 (NM_018923.2(PCDHGB2):c.435C>T (p.Ser145=)) Homo sapiens

Symbol: CV86647
Name: NM_018923.2(PCDHGB2):c.435C>T (p.Ser145=)
Condition: Malignant melanoma [RCV000066738]
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:0001819)
Source: CLINVAR
Molecular Consequence: intron|intron variant|synonymous variant
Evidence: literature only|not provided
HGVS Name(s): NC_000005.8:g.140720321C>T
NM_018922.2:c.2409+7901C>T
NM_018912.2:c.2421+27465C>T
NM_018916.3:c.2424+14113C>T
NM_018923.2:c.435C>T
NM_032096.1:c.435C>T
NC_000005.10:g.141360570C>T
NC_000005.9:g.140740137C>T
NM_032053.1:c.*66+d2841C>T
NM_018918.2:c.1-u3761C>T
NM_032054.1:c.1-u3761C>T
NP_061746.1:p.Ser145=
NP_115267.1:p.Ser145=
NM_018915.3:c.2424+19175C>T
NM_018917.3:c.2514+2949C>T
NM_018917.2:c.2421+2949C>T
NM_018915.2:c.2424+19175C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,360,570 - 141,360,570CLINVAR
GRCh375140,740,137 - 140,740,137CLINVAR
Build 365140,720,321 - 140,720,321CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8657781
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.