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Variant : CV243700 (NM_000268.3(NF2):c.1446+6C>A) Homo sapiens

Symbol: CV243700
Name: NM_000268.3(NF2):c.1446+6C>A
Condition: Neurofibromatosis, type 2 [RCV000226014]
Clinical Significance: uncertain significance
Last Evaluated: 02/19/2016
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_511t1:c.1446+6C>A
LRG_511t2:c.1446+6C>A
NM_000268.3:c.1446+6C>A
NM_016418.5:c.1446+6C>A
LRG_511:g.76392C>A
NG_009057.1:g.76392C>A
NC_000022.11:g.29674947C>A
NC_000022.10:g.30070936C>A
NM_181828.3:c.1320+6C>A
NM_181829.3:c.1323+6C>A
NM_181825.3:c.1446+6C>A
NM_181832.3:c.1446+6C>A
NM_181833.2:c.448-19805C>A
NM_181830.3:c.1197+6C>A
NM_181831.3:c.1197+6C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,674,947 - 29,674,947CLINVAR
GRCh372230,070,936 - 30,070,936CLINVAR
Cytogenetic Map2222q12.2CLINVAR
Age Of Onset: all ages
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11351278
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.