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Variant : CV698751 (NM_182632.3(SLC6A18):c.949A>G (p.Asn317Asp)) Homo sapiens

Symbol: CV698751
Name: NM_182632.3(SLC6A18):c.949A>G (p.Asn317Asp)
Condition: not provided [RCV000950675]
Clinical Significance: benign
Last Evaluated: 03/29/2018
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.949A>G
NC_000005.10:g.1240634A>G
NC_000005.9:g.1240749A>G
NM_182632.2:c.949A>G
NP_872438.2:p.Asn317Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh3851,240,634 - 1,240,634CLINVAR
GRCh3751,240,749 - 1,240,749CLINVAR
Cytogenetic Map55p15.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15175808
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.