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Variant : CV24905 (NM_003179.2(SYP):c.649G>C (p.Gly217Arg)) Homo sapiens

Symbol: CV24905
Name: NM_003179.2(SYP):c.649G>C (p.Gly217Arg)
Condition: Mental retardation, X-linked 96 [RCV000010541]
Clinical Significance: pathogenic
Last Evaluated: 02/17/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SYP  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): P08247:p.Gly217Arg
NM_003179.2:c.649G>C
NG_012532.1:g.13475G>C
NC_000023.11:g.49191730C>G
NC_000023.10:g.49048187C>G
NP_003170.1:p.Gly217Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,191,730 - 49,191,730CLINVAR
GRCh37X49,048,187 - 49,048,187CLINVAR
Cytogenetic MapXXp11.23CLINVAR
Age Of Onset: childhood



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8561216
Created: 2014-05-13
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.