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Variant : CV723315 (NM_001004457.2(OR1N2):c.373C>T (p.Arg125Cys)) Homo sapiens

Symbol: CV723315
Name: NM_001004457.2(OR1N2):c.373C>T (p.Arg125Cys)
Condition: not provided [RCV000880985]
Clinical Significance: benign
Last Evaluated: 05/24/2018
Review Status: criteria provided, single submitter
Related Genes: OR1J2   OR1L8   OR1N2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001004457.2:c.373C>T
NC_000009.12:g.122553584C>T
NC_000009.11:g.125315863C>T
NM_001004457.1:c.415C>T
NP_001004457.2:p.Arg125Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh389122,553,584 - 122,553,584CLINVAR
GRCh379125,315,863 - 125,315,863CLINVAR
Cytogenetic Map99q33.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15158325
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-03-31
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.