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Variant : CV698750 (NM_182632.3(SLC6A18):c.839C>T (p.Ser280Leu)) Homo sapiens

Symbol: CV698750
Name: NM_182632.3(SLC6A18):c.839C>T (p.Ser280Leu)
Condition: not provided [RCV000952872]
Clinical Significance: benign
Last Evaluated: 04/04/2018
Review Status: criteria provided, single submitter
Related Genes: SLC6A18  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_182632.3:c.839C>T
NC_000005.10:g.1239556C>T
NC_000005.9:g.1239671C>T
NM_182632.2:c.839C>T
NP_872438.2:p.Ser280Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh3851,239,556 - 1,239,556CLINVAR
GRCh3751,239,671 - 1,239,671CLINVAR
Cytogenetic Map55p15.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15185072
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-02-20
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.