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Variant : CV730325 (NM_182632.3(SLC6A18):c.1132-4G>A) Homo sapiens

Symbol: CV730325
Name: NM_182632.3(SLC6A18):c.1132-4G>A
Condition: not provided [RCV000889567]
Clinical Significance: benign
Last Evaluated: 11/28/2017
Review Status: criteria provided, single submitter
Related Genes: SLC6A18  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_182632.3:c.1132-4G>A
NC_000005.10:g.1243551G>A
NC_000005.9:g.1243666G>A
NM_182632.2:c.1132-4G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3851,243,551 - 1,243,551CLINVAR
GRCh3751,243,666 - 1,243,666CLINVAR
Cytogenetic Map55p15.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15195668
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-02-11
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.