Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV697464 (NM_173351.1(OR6B3):c.143C>T (p.Thr48Ile)) Homo sapiens

Symbol: CV697464
Name: NM_173351.1(OR6B3):c.143C>T (p.Thr48Ile)
Condition: not provided [RCV000946702]
Clinical Significance: benign
Last Evaluated: 06/22/2017
Review Status: criteria provided, single submitter
Related Genes: OR6B3  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_173351.1:c.143C>T
NC_000002.12:g.240045930G>A
NC_000002.11:g.240985347G>A
NP_775486.1:p.Thr48Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh382240,045,930 - 240,045,930CLINVAR
GRCh372240,985,347 - 240,985,347CLINVAR
Cytogenetic Map22q37.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15156457
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.