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Variant : CV480395 (NM_000268.3(NF2):c.1500C>T (p.Leu500=)) Homo sapiens

Symbol: CV480395
Name: NM_000268.3(NF2):c.1500C>T (p.Leu500=)
Condition: Hereditary cancer-predisposing syndrome [RCV000574556]|Neurofibromatosis, type 2 [RCV000632668]
Clinical Significance: likely benign
Last Evaluated: 12/19/2017
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): NM_000268.3:c.1500C>T
LRG_511t1:c.1500C>T
LRG_511t2:c.1500C>T
NM_016418.5:c.1500C>T
NM_181833.2:c.448-16503C>T
LRG_511:g.79694C>T
NG_009057.1:g.79694C>T
NC_000022.11:g.29678249C>T
NC_000022.10:g.30074238C>T
LRG_511p1:p.Leu500=
LRG_511p2:p.Leu500=
NP_000259.1:p.Leu500=
NP_057502.2:p.Leu500=
NR_156186.1:n.2059C>T
NP_861968.1:p.Leu417=
NM_181830.3:c.1251C>T
NM_181831.3:c.1251C>T
NM_181828.3:c.1374C>T
NM_181829.3:c.1377C>T
NM_181825.3:c.1500C>T
NM_181832.3:c.1500C>T
NP_861969.1:p.Leu417=
NP_861966.1:p.Leu458=
NP_861967.1:p.Leu459=
NP_861546.1:p.Leu500=
NP_861970.1:p.Leu500=
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,678,249 - 29,678,249CLINVAR
GRCh372230,074,238 - 30,074,238CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13501647
Created: 2018-01-09
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.