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Variant : CV139309 (NM_000268.3(NF2):c.1737+2098A>G) Homo sapiens

Symbol: CV139309
Name: NM_000268.3(NF2):c.1737+2098A>G
Condition: AllHighlyPenetrant [RCV000122432]|Neurofibromatosis, type 2 [RCV000415693]|not specified [RCV000122432]
Clinical Significance: uncertain significance|not provided
Last Evaluated: 12/19/2015
Review Status: criteria provided, single submitter|no assertion provided|not classified by submitter
Related Genes: NF2  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant|intron variant|splice acceptor variant
Evidence: clinical testing|reference population
HGVS Name(s): LRG_511t1:c.1737+2098A>G
NM_000268.3:c.1737+2098A>G
LRG_511:g.85144A>G
NG_009057.1:g.85144A>G
NC_000022.11:g.29683699A>G
NC_000022.10:g.30079688A>G
NM_181825.3:c.*644A>G
NM_181831.3:c.10-2A>G
NM_181832.3:c.24+620A>G
NM_181833.2:c.448-11053A>G
NM_016418.5:c.9+635A>G
NM_181828.3:c.9+635A>G
NM_181829.3:c.9+635A>G
NM_181830.3:c.9+635A>G
NM_181825.2:c.*644A>G
LRG_511t2:c.9+635A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,683,699 - 29,683,699CLINVAR
GRCh372230,079,688 - 30,079,688CLINVAR
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: 8688693
Created: 2014-07-08
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.