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Variant : CV709675 (NM_018915.4(PCDHGA2):c.2424+72431C>T) Homo sapiens

Symbol: CV709675
Name: NM_018915.4(PCDHGA2):c.2424+72431C>T
Condition: not provided [RCV000962128]
Clinical Significance: benign
Last Evaluated: 05/21/2018
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_018925.2:c.2397+13302C>T
NM_003736.3:c.2397+23545C>T
NM_018922.2:c.2409+61157C>T
NM_018924.5:c.2415+41017C>T
NM_018926.2:c.2418+3206C>T
NM_018918.2:c.2421+47075C>T
NM_018923.2:c.2421+51270C>T
NM_018913.2:c.651C>T
NM_032090.1:c.651C>T
NG_000012.2:g.124023C>T
NC_000005.10:g.141413826C>T
NC_000005.9:g.140793393C>T
NP_061736.1:p.Thr217=
NP_114479.1:p.Thr217=
NM_018912.2:c.2421+80721C>T
NM_032088.1:c.2424+18589C>T
NM_018920.4:c.2424+28503C>T
NM_018919.3:c.2424+37319C>T
NM_018916.4:c.2424+67369C>T
NM_018915.4:c.2424+72431C>T
NM_018921.2:c.2424+8450C>T
NM_018917.4:c.2514+56205C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,413,826 - 141,413,826CLINVAR
GRCh375140,793,393 - 140,793,393CLINVAR
Cytogenetic Map55q31.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15116992
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-03-24
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.