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Variant : CV749276 (NM_002588.4(PCDHGC3):c.2634C>T (p.Ser878=)) Homo sapiens

Symbol: CV749276
Name: NM_002588.4(PCDHGC3):c.2634C>T (p.Ser878=)
Condition: not provided [RCV000914990]
Clinical Significance: likely 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   PCDHGC4   PCDHGC5  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_018919.3:c.2628C>T
NM_018920.4:c.2628C>T
NM_018921.2:c.2628C>T
NM_032088.1:c.2628C>T
NM_002588.4:c.2634C>T
NM_018914.3:c.2637C>T
NM_018913.2:c.2640C>T
NM_018928.2:c.2646C>T
NM_018929.3:c.2664C>T
NM_018917.4:c.2718C>T
NG_000012.2:g.221199C>T
NG_050746.1:g.30829C>T
NC_000005.10:g.141511002C>T
NC_000005.9:g.140890569C>T
NP_114481.1:p.Ser694=
NP_115779.1:p.Ser78=
NP_003727.1:p.Ser867=
NM_032092.2:c.2082C>T
NM_032403.3:c.234C>T
NM_003736.3:c.2601C>T
NM_018925.2:c.2601C>T
NM_018922.2:c.2613C>T
NM_018927.4:c.2619C>T
NM_018926.2:c.2622C>T
NM_018923.2:c.2625C>T
NM_003735.3:c.2628C>T
NM_018915.4:c.2628C>T
NM_018916.4:c.2628C>T
NP_061740.2:p.Ser906=
NM_018924.5:c.2619C>T
NM_018912.2:c.2625C>T
NM_018918.2:c.2625C>T
NP_061748.1:p.Ser867=
NP_061745.1:p.Ser871=
NP_061747.2:p.Ser873=
NP_061750.1:p.Ser873=
NP_061749.1:p.Ser874=
NP_061735.1:p.Ser875=
NP_061741.1:p.Ser875=
NP_061746.1:p.Ser875=
NP_003726.1:p.Ser876=
NP_061738.1:p.Ser876=
NP_061739.2:p.Ser876=
NP_061742.1:p.Ser876=
NP_061743.1:p.Ser876=
NP_061744.1:p.Ser876=
NP_114477.1:p.Ser876=
NP_002579.2:p.Ser878=
NP_061737.1:p.Ser879=
NP_061736.1:p.Ser880=
NP_061751.1:p.Ser882=
NP_061752.1:p.Ser888=
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,511,002 - 141,511,002CLINVAR
GRCh375140,890,569 - 140,890,569CLINVAR
Cytogenetic Map55q31.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15102574
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.