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Variant : CV709679 (NM_002588.4(PCDHGC3):c.2178A>G (p.Leu726=)) Homo sapiens

Symbol: CV709679
Name: NM_002588.4(PCDHGC3):c.2178A>G (p.Leu726=)
Condition: not provided [RCV000963442]
Clinical Significance: benign
Last Evaluated: 04/04/2018
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  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_018920.4:c.2425-16513A>G
NM_032088.1:c.2425-16513A>G
NM_018914.3:c.2434-16513A>G
NM_018913.2:c.2437-16513A>G
NM_018917.4:c.2515-16513A>G
NC_000005.9:g.140857861A>G
NM_002588.3:c.2178A>G
NM_018921.2:c.2425-16513A>G
NC_000005.10:g.141478294A>G
NM_032092.2:c.1879-16513A>G
NM_002588.4:c.2178A>G
NM_032402.2:c.2178A>G
NM_003736.3:c.2398-16513A>G
NM_018925.2:c.2398-16513A>G
NM_018922.2:c.2410-16513A>G
NM_018924.5:c.2416-16513A>G
NM_018927.4:c.2416-16513A>G
NM_018926.2:c.2419-16513A>G
NM_018912.2:c.2422-16513A>G
NM_018918.2:c.2422-16513A>G
NM_018923.2:c.2422-16513A>G
NM_003735.3:c.2425-16513A>G
NM_018915.4:c.2425-16513A>G
NM_018916.4:c.2425-16513A>G
NM_032403.3:c.30+2148A>G
NG_000012.2:g.188491A>G
NP_002579.2:p.Leu726=
NP_115778.1:p.Leu726=
NM_018919.3:c.2425-16513A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,478,294 - 141,478,294CLINVAR
GRCh375140,857,861 - 140,857,861CLINVAR
Cytogenetic Map55q31.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15124593
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-03-31
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.