Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV734883 (NM_002588.4(PCDHGC3):c.2646A>G (p.Gly882=)) Homo sapiens

Symbol: CV734883
Name: NM_002588.4(PCDHGC3):c.2646A>G (p.Gly882=)
Condition: not provided [RCV000897354]
Clinical Significance: benign
Last Evaluated: 05/31/2018
Review Status: criteria provided, single submitter
Related Genes: PCDHG@   PCDHGA1   PCDHGA10   PCDHGA11   PCDHGA12   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGA7   PCDHGA8   PCDHGA9   PCDHGB1   PCDHGB2   PCDHGB3   PCDHGB4   PCDHGB5   PCDHGB6   PCDHGB7   PCDHGC3   PCDHGC4   PCDHGC5  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_018923.2:c.2637A>G
NM_003735.3:c.2640A>G
NM_018915.4:c.2640A>G
NM_018916.4:c.2640A>G
NM_018919.3:c.2640A>G
NM_018920.4:c.2640A>G
NM_018921.2:c.2640A>G
NM_032088.1:c.2640A>G
NM_002588.4:c.2646A>G
NM_018914.3:c.2649A>G
NM_018913.2:c.2652A>G
NM_018928.2:c.2658A>G
NM_018929.3:c.2676A>G
NM_018917.4:c.2730A>G
NG_000012.2:g.221211A>G
NG_050746.1:g.30841A>G
NC_000005.10:g.141511014A>G
NC_000005.9:g.140890581A>G
NM_002588.3:c.2646A>G
NP_114481.1:p.Gly698=
NP_115779.1:p.Gly82=
NP_003727.1:p.Gly871=
NP_061748.1:p.Gly871=
NP_061745.1:p.Gly875=
NP_061747.2:p.Gly877=
NP_061750.1:p.Gly877=
NP_061749.1:p.Gly878=
NP_061735.1:p.Gly879=
NP_061741.1:p.Gly879=
NP_061746.1:p.Gly879=
NP_003726.1:p.Gly880=
NP_061738.1:p.Gly880=
NP_061739.2:p.Gly880=
NP_061742.1:p.Gly880=
NP_061743.1:p.Gly880=
NP_061744.1:p.Gly880=
NP_114477.1:p.Gly880=
NP_002579.2:p.Gly882=
NP_061737.1:p.Gly883=
NP_061736.1:p.Gly884=
NP_061751.1:p.Gly886=
NP_061752.1:p.Gly892=
NP_061740.2:p.Gly910=
NM_032403.3:c.246A>G
NM_003736.3:c.2613A>G
NM_018925.2:c.2613A>G
NM_018922.2:c.2625A>G
NM_018924.5:c.2631A>G
NM_018927.4:c.2631A>G
NM_018926.2:c.2634A>G
NM_018912.2:c.2637A>G
NM_018918.2:c.2637A>G
NM_032092.2:c.2094A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,511,014 - 141,511,014CLINVAR
GRCh375140,890,581 - 140,890,581CLINVAR
Cytogenetic Map55q31.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15128919
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.