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Variant : CV351285 (NM_000268.3(NF2):c.903C>T (p.Ile301=)) Homo sapiens

Symbol: CV351285
Name: NM_000268.3(NF2):c.903C>T (p.Ile301=)
Condition: Neurofibromatosis, type 2 [RCV000309789]
Clinical Significance: likely benign
Last Evaluated: 01/31/2017
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_181830.3:c.654C>T
NM_181831.3:c.654C>T
NM_181828.3:c.777C>T
NM_181829.3:c.780C>T
NR_156186.1:n.1462C>T
NP_861968.1:p.Ile218=
NP_861969.1:p.Ile218=
NP_861966.1:p.Ile259=
NP_861546.1:p.Ile301=
NP_861970.1:p.Ile301=
LRG_511t1:c.903C>T
LRG_511t2:c.903C>T
NM_181833.2:c.447+26065C>T
NM_016418.5:c.903C>T
LRG_511:g.69795C>T
NG_009057.1:g.69795C>T
NC_000022.11:g.29668350C>T
NC_000022.10:g.30064339C>T
LRG_511p1:p.Ile301=
LRG_511p2:p.Ile301=
NP_000259.1:p.Ile301=
NP_057502.2:p.Ile301=
NP_861967.1:p.Ile260=
NM_181825.3:c.903C>T
NM_181832.3:c.903C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,668,350 - 29,668,350CLINVAR
GRCh372230,064,339 - 30,064,339CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Age Of Onset: all ages
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11628799
Created: 2017-01-11
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.