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Variant : CV86653 (NM_032097.2(PCDHGB3):c.1245C>T (p.Ile415=)) Homo sapiens

Symbol: CV86653
Name: NM_032097.2(PCDHGB3):c.1245C>T (p.Ile415=)
Condition: Malignant melanoma [RCV000066744]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PCDHG@   PCDHGA1   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGB1   PCDHGB2   PCDHGB3  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: intron|synonymous variant|intron variant
Evidence: literature only|not provided
HGVS Name(s): NM_032097.2:c.1245C>T
NM_018924.2:c.1245C>T
NM_032097.1:c.1245C>T
NP_061747.1:p.Ile415=
NP_115268.1:p.Ile415=
NP_115268.2:p.Ile415=
NP_061747.2:p.Ile415=
NC_000005.8:g.140731390C>T
NM_018922.2:c.2409+18970C>T
NM_018912.2:c.2421+38534C>T
NM_018918.2:c.2421+4888C>T
NM_018923.2:c.2421+9083C>T
NM_018916.3:c.2424+25182C>T
NC_000005.10:g.141371639C>T
NC_000005.9:g.140751206C>T
NM_018919.2:c.1-u2445C>T
NM_032086.1:c.1-u2445C>T
NM_032054.1:c.2442+d4867C>T
NM_018915.3:c.2424+30244C>T
NM_018917.3:c.2514+14018C>T
NM_018917.2:c.2421+14018C>T
NM_018915.2:c.2424+30244C>T
NM_018924.4:c.1245C>T
NM_018924.3:c.1245C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,371,639 - 141,371,639CLINVAR
GRCh375140,751,206 - 140,751,206CLINVAR
Build 365140,731,390 - 140,731,390CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8657787
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.