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Variant : CV679287 (NM_006236.3(POU3F3):c.1284C>A (p.Cys428Ter)) Homo sapiens

Symbol: CV679287
Name: NM_006236.3(POU3F3):c.1284C>A (p.Cys428Ter)
Condition: SNIJDERS BLOK-FISHER SYNDROME [RCV000852343]
Clinical Significance: pathogenic
Last Evaluated: 10/03/2019
Review Status: no assertion criteria provided
Related Genes: POU3F3  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: literature only
HGVS Name(s): NM_006236.3:c.1284C>A
NC_000002.12:g.104856794C>A
NC_000002.11:g.105473252C>A
NM_006236.2:c.1284C>A
NP_006227.1:p.Cys428Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh382104,856,794 - 104,856,794CLINVAR
GRCh372105,473,252 - 105,473,252CLINVAR
Cytogenetic Map22q12.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15014836
Created: 2019-11-12
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.