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

Variant : CV709677 (NM_018915.4(PCDHGA2):c.2424+73968C>T) Homo sapiens

Symbol: CV709677
Name: NM_018915.4(PCDHGA2):c.2424+73968C>T
Condition: not provided [RCV000963848]
Clinical Significance: likely benign
Last Evaluated: 02/26/2019
Review Status: criteria provided, single submitter
Related Genes: PCDHG@   PCDHGA1   PCDHGA10   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGA7   PCDHGA8   PCDHGA9   PCDHGB1   PCDHGB2   PCDHGB3   PCDHGB4   PCDHGB5   PCDHGB6  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_018913.2:c.2188C>T
NM_032090.1:c.2188C>T
NM_018925.2:c.2397+14839C>T
NM_003736.3:c.2397+25082C>T
NM_018922.2:c.2409+62694C>T
NM_018924.5:c.2415+42554C>T
NM_018926.2:c.2418+4743C>T
NM_018918.2:c.2421+48612C>T
NM_018923.2:c.2421+52807C>T
NM_018912.2:c.2422-79444C>T
NM_032088.1:c.2424+20126C>T
NM_018920.4:c.2424+30040C>T
NM_018919.3:c.2424+38856C>T
NM_018916.4:c.2424+68906C>T
NM_018915.4:c.2424+73968C>T
NM_018921.2:c.2424+9987C>T
NM_018917.4:c.2514+57742C>T
NG_000012.2:g.125560C>T
NC_000005.10:g.141415363C>T
NC_000005.9:g.140794930C>T
NP_061736.1:p.Gln730Ter
NP_114479.1:p.Gln730Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,415,363 - 141,415,363CLINVAR
GRCh375140,794,930 - 140,794,930CLINVAR
Cytogenetic Map55q31.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15127119
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE



NHLBI Logo

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