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Variant : CV709598 (NM_182632.3(SLC6A18):c.825T>C (p.Phe275=)) Homo sapiens

Symbol: CV709598
Name: NM_182632.3(SLC6A18):c.825T>C (p.Phe275=)
Condition: not provided [RCV000968589]
Clinical Significance: benign
Last Evaluated: 03/29/2018
Review Status: criteria provided, single submitter
Related Genes: SLC6A18  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_182632.3:c.825T>C
NC_000005.10:g.1239542T>C
NC_000005.9:g.1239657T>C
NM_182632.2:c.825T>C
NP_872438.2:p.Phe275=
Position
Human AssemblyChrPosition (strand)Source
GRCh3851,239,542 - 1,239,542CLINVAR
GRCh3751,239,657 - 1,239,657CLINVAR
Cytogenetic Map55p15.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15153666
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.