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Variant : CV571891 (NM_000268.3(NF2):c.736C>T (p.Pro246Ser)) Homo sapiens

Symbol: CV571891
Name: NM_000268.3(NF2):c.736C>T (p.Pro246Ser)
Condition: Neurofibromatosis, type 2 [RCV000700351]
Clinical Significance: uncertain significance
Last Evaluated: 06/13/2018
Review Status: 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): LRG_511p1:p.Pro246Ser
LRG_511t1:c.736C>T
LRG_511t2:c.736C>T
NG_009057.1:g.62710C>T
NC_000022.10:g.30057254C>T
LRG_511p2:p.Pro246Ser
NM_016418.5:c.736C>T
NC_000022.11:g.29661265C>T
NP_057502.2:p.Pro246Ser
NM_181833.2:c.447+18980C>T
LRG_511:g.62710C>T
NP_000259.1:p.Pro246Ser
NM_181830.3:c.487C>T
NM_181831.3:c.487C>T
NM_181828.3:c.610C>T
NM_181825.3:c.736C>T
NM_181832.3:c.736C>T
NR_156186.1:n.1295C>T
NP_861968.1:p.Pro163Ser
NP_861969.1:p.Pro163Ser
NP_861966.1:p.Pro204Ser
NP_861967.1:p.Pro205Ser
NP_861546.1:p.Pro246Ser
NP_861970.1:p.Pro246Ser
NM_181829.3:c.613C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,661,265 - 29,661,265CLINVAR
GRCh372230,057,254 - 30,057,254CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13805915
Created: 2018-11-06
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.