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Variant : CV727410 (NM_181790.1(GPR142):c.1117C>T (p.Arg373Trp)) Homo sapiens

Symbol: CV727410
Name: NM_181790.1(GPR142):c.1117C>T (p.Arg373Trp)
Condition: not provided [RCV000889117]
Clinical Significance: likely benign
Last Evaluated: 10/17/2017
Review Status: criteria provided, single submitter
Related Genes: GPR142  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_181790.1:c.1117C>T
NM_001331076.1:c.853C>T
NM_001331077.1:c.853C>T
NC_000017.11:g.74372328C>T
NC_000017.10:g.72368467C>T
NP_001318005.1:p.Arg285Trp
NP_001318006.1:p.Arg285Trp
NP_861455.1:p.Arg373Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh381774,372,328 - 74,372,328CLINVAR
GRCh371772,368,467 - 72,368,467CLINVAR
Cytogenetic Map1717q25.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15194069
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-03-24
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.