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Variant : CV698874 (NM_018915.4(PCDHGA2):c.2424+73712A>G) Homo sapiens

Symbol: CV698874
Name: NM_018915.4(PCDHGA2):c.2424+73712A>G
Condition: not provided [RCV000956313]
Clinical Significance: likely benign
Last Evaluated: 05/08/2018
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_018913.2:c.1932A>G
NM_032090.1:c.1932A>G
NM_018925.2:c.2397+14583A>G
NM_003736.3:c.2397+24826A>G
NM_018922.2:c.2409+62438A>G
NM_018924.5:c.2415+42298A>G
NM_018926.2:c.2418+4487A>G
NM_018918.2:c.2421+48356A>G
NM_018923.2:c.2421+52551A>G
NM_018912.2:c.2422-79700A>G
NM_032088.1:c.2424+19870A>G
NM_018920.4:c.2424+29784A>G
NM_018919.3:c.2424+38600A>G
NM_018916.4:c.2424+68650A>G
NM_018915.4:c.2424+73712A>G
NM_018921.2:c.2424+9731A>G
NM_018917.4:c.2514+57486A>G
NG_000012.2:g.125304A>G
NC_000005.10:g.141415107A>G
NC_000005.9:g.140794674A>G
NP_061736.1:p.Gln644=
NP_114479.1:p.Gln644=
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,415,107 - 141,415,107CLINVAR
GRCh375140,794,674 - 140,794,674CLINVAR
Cytogenetic Map55q31.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15196897
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-03-17
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.