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Variant : CV266838 (NM_003179.2(SYP):c.593C>T (p.Thr198Ile)) Homo sapiens

Symbol: CV266838
Name: NM_003179.2(SYP):c.593C>T (p.Thr198Ile)
Condition: not specified [RCV000341861]
Clinical Significance: likely benign
Last Evaluated: 08/13/2015
Review Status: criteria provided, single submitter
Related Genes: SYP  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_003179.2:c.593C>T
NG_012532.1:g.11911C>T
NC_000023.11:g.49193294G>A
NC_000023.10:g.49049751G>A
NP_003170.1:p.Thr198Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,193,294 - 49,193,294CLINVAR
GRCh37X49,049,751 - 49,049,751CLINVAR
Cytogenetic MapXXp11.23CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11640668
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-09-10
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.