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Variant : CV446398 (NM_000268.3(NF2):c.1346_1347del (p.Lys449fs)) Homo sapiens

Symbol: CV446398
Name: NM_000268.3(NF2):c.1346_1347del (p.Lys449fs)
Condition: Neurofibromatosis, type 2 [RCV000528431]|not provided [RCV000522897]
Clinical Significance: pathogenic
Last Evaluated: 12/21/2017
Review Status: criteria provided, single submitter
Related Genes: NF2  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): LRG_511:g.76286_76287del
LRG_511t1:c.1346_1347del
LRG_511t2:c.1346_1347del
NM_181832.3:c.1346_1347del
NM_181833.2:c.448-19911_448-19910del
NG_009057.1:g.76286_76287del
NM_181830.3:c.1097_1098del
NM_181831.3:c.1097_1098del
NM_181828.3:c.1220_1221del
NM_181829.3:c.1223_1224del
NM_000268.3:c.1346_1347del
NM_016418.5:c.1346_1347del
NM_181825.3:c.1346_1347del
NR_156186.1:n.1905_1906del
LRG_511p1:p.Lys449fs
LRG_511p2:p.Lys449fs
NP_861968.1:p.Lys366fs
NP_861969.1:p.Lys366fs
NC_000022.10:g.30070830_30070831del
NP_861966.1:p.Lys407fs
NP_861967.1:p.Lys408fs
NP_000259.1:p.Lys449fs
NP_057502.2:p.Lys449fs
NP_861546.1:p.Lys449fs
NP_861970.1:p.Lys449fs
NC_000022.11:g.29674841_29674842del
NM_000268.3:c.1346_1347delAA
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,674,841 - 29,674,842CLINVAR
GRCh372230,070,830 - 30,070,831CLINVAR
Cytogenetic Map2222q12.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13480216
Created: 2018-01-09
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.