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Variant : CV574061 (NM_000268.3(NF2):c.74G>A (p.Arg25Lys)) Homo sapiens

Symbol: CV574061
Name: NM_000268.3(NF2):c.74G>A (p.Arg25Lys)
Condition: Neurofibromatosis, type 2 [RCV000703501]
Clinical Significance: uncertain significance
Last Evaluated: 02/02/2018
Review Status: criteria provided, single submitter
Related Genes: NF2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_000268.3:c.74G>A
LRG_511t1:c.74G>A
LRG_511t2:c.74G>A
NM_016418.5:c.74G>A
LRG_511:g.5517G>A
NG_009057.1:g.5517G>A
NC_000022.11:g.29604072G>A
NC_000022.10:g.30000061G>A
LRG_511p1:p.Arg25Lys
LRG_511p2:p.Arg25Lys
NP_000259.1:p.Arg25Lys
NP_057502.2:p.Arg25Lys
NM_181825.3:c.74G>A
NM_181828.3:c.74G>A
NM_181829.3:c.74G>A
NM_181830.3:c.74G>A
NM_181831.3:c.74G>A
NM_181832.3:c.74G>A
NM_181833.2:c.74G>A
NR_156186.1:n.517G>A
NP_861546.1:p.Arg25Lys
NP_861966.1:p.Arg25Lys
NP_861967.1:p.Arg25Lys
NP_861968.1:p.Arg25Lys
NP_861969.1:p.Arg25Lys
NP_861970.1:p.Arg25Lys
NP_861971.1:p.Arg25Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,604,072 - 29,604,072CLINVAR
GRCh372230,000,061 - 30,000,061CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13812125
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2019-12-03
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.