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

Variant : CV698876 (NM_002588.4(PCDHGC3):c.2431-4160G>A) Homo sapiens

Symbol: CV698876
Name: NM_002588.4(PCDHGC3):c.2431-4160G>A
Condition: not provided [RCV000956315]
Clinical Significance: benign
Last Evaluated: 11/16/2017
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:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_018929.3:c.1407G>A
NM_032407.1:c.1407G>A
NM_032092.2:c.1879-4160G>A
NM_003736.3:c.2398-4160G>A
NM_018925.2:c.2398-4160G>A
NM_018922.2:c.2410-4160G>A
NM_018924.5:c.2416-4160G>A
NM_018927.4:c.2416-4160G>A
NM_018926.2:c.2419-4160G>A
NM_018912.2:c.2422-4160G>A
NM_018918.2:c.2422-4160G>A
NM_018923.2:c.2422-4160G>A
NM_003735.3:c.2425-4160G>A
NM_018915.4:c.2425-4160G>A
NM_018916.4:c.2425-4160G>A
NM_018919.3:c.2425-4160G>A
NM_018920.4:c.2425-4160G>A
NM_018921.2:c.2425-4160G>A
NM_032088.1:c.2425-4160G>A
NM_002588.4:c.2431-4160G>A
NM_018914.3:c.2434-4160G>A
NM_018913.2:c.2437-4160G>A
NM_018928.2:c.2442+3032G>A
NM_018917.4:c.2515-4160G>A
NM_032403.3:c.31-4160G>A
NG_050746.1:g.10474G>A
NG_000012.2:g.200844G>A
NC_000005.10:g.141490647G>A
NC_000005.9:g.140870214G>A
NM_018929.2:c.1407G>A
NP_061752.1:p.Pro469=
NP_115783.1:p.Pro469=
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,490,647 - 141,490,647CLINVAR
GRCh375140,870,214 - 140,870,214CLINVAR
Cytogenetic Map55q31.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15196904
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE



NHLBI Logo

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