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Variant : CV495585 (NM_000268.3(NF2):c.2T>C (p.Met1Thr)) Homo sapiens

Symbol: CV495585
Name: NM_000268.3(NF2):c.2T>C (p.Met1Thr)
Condition: not provided [RCV000599193]
Clinical Significance: likely pathogenic
Last Evaluated: 03/05/2018
Review Status: criteria provided, single submitter
Related Genes: NF2  
Variant Type: single nucleotide variant (SO:0001582)
Source: CLINVAR
Molecular Consequence: initiatior codon variant|missense variant
Evidence: clinical testing
HGVS Name(s): NM_000268.3:c.2T>C
LRG_511t1:c.2T>C
LRG_511t2:c.2T>C
NM_016418.5:c.2T>C
LRG_511:g.5445T>C
NG_009057.1:g.5445T>C
NC_000022.11:g.29604000T>C
NC_000022.10:g.29999989T>C
LRG_511p1:p.Met1Thr
LRG_511p2:p.Met1Thr
NP_000259.1:p.Met1Thr
NP_057502.2:p.Met1Thr
NM_181833.2:c.2T>C
NP_861966.1:p.Met1Thr
NM_181832.3:c.2T>C
NP_861971.1:p.Met1Thr
NM_181825.3:c.2T>C
NP_861967.1:p.Met1Thr
NP_861968.1:p.Met1Thr
NP_861969.1:p.Met1Thr
NP_861970.1:p.Met1Thr
NM_181828.3:c.2T>C
NM_181829.3:c.2T>C
NM_181830.3:c.2T>C
NM_181831.3:c.2T>C
NR_156186.1:n.445T>C
NP_861546.1:p.Met1Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh382229,604,000 - 29,604,000CLINVAR
GRCh372229,999,989 - 29,999,989CLINVAR
Cytogenetic Map2222q12.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13521120
Created: 2018-04-10
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.