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Variant : CV698754 (NM_182632.3(SLC6A18):c.1576_1578CTG[4] (p.Leu528dup)) Homo sapiens

Symbol: CV698754
Name: NM_182632.3(SLC6A18):c.1576_1578CTG[4] (p.Leu528dup)
Condition: not provided [RCV000952875]
Clinical Significance: benign
Last Evaluated: 04/04/2018
Review Status: criteria provided, single submitter
Related Genes: SLC6A18  
Variant Type: microsatellite (SO:0001821)
Source: CLINVAR
Molecular Consequence: inframe_insertion
Evidence: clinical testing
HGVS Name(s): NM_182632.3:c.1576_1578CTG[4]
NC_000005.10:g.1244687_1244689CTG[4]
NC_000005.9:g.1244802_1244804CTG[4]
NM_182632.2:c.1582_1584dupCTG
NP_872438.2:p.Leu528dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3851,244,686 - 1,244,687CLINVAR
GRCh3751,244,801 - 1,244,802CLINVAR
Cytogenetic Map55p15.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15185084
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.