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Variant : CV205345 (NM_003179.2(SYP):c.520G>A (p.Glu174Lys)) Homo sapiens

Symbol: CV205345
Name: NM_003179.2(SYP):c.520G>A (p.Glu174Lys)
Condition: Inborn genetic diseases [RCV000190692]|Multiple congenital anomalies [RCV000190692]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: criteria provided, single submitter|no assertion criteria provided
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.520G>A
NG_012532.1:g.11838G>A
NC_000023.11:g.49193367C>T
NC_000023.10:g.49049824C>T
NP_003170.1:p.Glu174Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,193,367 - 49,193,367CLINVAR
GRCh37X49,049,824 - 49,049,824CLINVAR
Cytogenetic MapXXp11.23CLINVAR



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10401497
Created: 2015-10-06
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.