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Variant : CV209078 (NM_003179.2(SYP):c.5T>A (p.Leu2Gln)) Homo sapiens

Symbol: CV209078
Name: NM_003179.2(SYP):c.5T>A (p.Leu2Gln)
Condition: not specified [RCV000194262]
Clinical Significance: uncertain significance
Last Evaluated: 06/06/2014
Review Status: criteria provided, single submitter
Related Genes: SYP   SYP-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: intron variant|missense variant
Evidence: clinical testing
HGVS Name(s): P08247:p.Leu2Gln
NM_003179.2:c.5T>A
NG_012532.1:g.5021T>A
NC_000023.11:g.49200182A>T
NC_000023.10:g.49056641A>T
NP_003170.1:p.Leu2Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,200,182 - 49,200,182CLINVAR
GRCh37X49,056,641 - 49,056,641CLINVAR
Cytogenetic MapXXp11.23CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10404608
Created: 2015-11-10
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.