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Variant : CV534196 (NM_000268.3(NF2):c.1445C>T (p.Pro482Leu)) Homo sapiens

Symbol: CV534196
Name: NM_000268.3(NF2):c.1445C>T (p.Pro482Leu)
Condition: Neurofibromatosis, type 2 [RCV000632635]
Clinical Significance: uncertain significance
Last Evaluated: 07/02/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: NF2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_016418.5:c.1445C>T
NM_181833.2:c.448-19812C>T
LRG_511:g.76385C>T
NG_009057.1:g.76385C>T
NC_000022.11:g.29674940C>T
NP_000259.1:p.Pro482Leu
NP_057502.2:p.Pro482Leu
LRG_511t1:c.1445C>T
LRG_511t2:c.1445C>T
NC_000022.10:g.30070929C>T
LRG_511p1:p.Pro482Leu
LRG_511p2:p.Pro482Leu
NM_181828.3:c.1319C>T
NM_181832.3:c.1445C>T
NR_156186.1:n.2004C>T
NP_861968.1:p.Pro399Leu
NP_861966.1:p.Pro440Leu
NP_861967.1:p.Pro441Leu
NP_861546.1:p.Pro482Leu
NP_861970.1:p.Pro482Leu
NP_861969.1:p.Pro399Leu
NM_181830.3:c.1196C>T
NM_181831.3:c.1196C>T
NM_181829.3:c.1322C>T
NM_181825.3:c.1445C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,674,940 - 29,674,940CLINVAR
GRCh372230,070,929 - 30,070,929CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13615250
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2019-11-12
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.