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Variant : CV243695 (NM_000268.3(NF2):c.1123-6C>T) Homo sapiens

Symbol: CV243695
Name: NM_000268.3(NF2):c.1123-6C>T
Condition: Neurofibromatosis, type 2 [RCV000234108]|not provided [RCV000732056]|not specified [RCV000780549]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 05/03/2018
Review Status: criteria provided, conflicting interpretations|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): LRG_511t1:c.1123-6C>T
LRG_511t2:c.1123-6C>T
NM_000268.3:c.1123-6C>T
NM_016418.5:c.1123-6C>T
LRG_511:g.74708C>T
NG_009057.1:g.74708C>T
NC_000022.11:g.29673263C>T
NC_000022.10:g.30069252C>T
NM_181829.3:c.1000-6C>T
NM_181831.3:c.874-6C>T
NM_181828.3:c.997-6C>T
NM_181825.3:c.1123-6C>T
NM_181832.3:c.1123-6C>T
NM_181833.2:c.448-21489C>T
NM_181830.3:c.874-6C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,673,263 - 29,673,263CLINVAR
GRCh372230,069,252 - 30,069,252CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: all ages
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11348017
Created: 2016-07-12
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.