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Variant : CV247198 (NM_003179.2(SYP):c.868G>T (p.Gly290Trp)) Homo sapiens

Symbol: CV247198
Name: NM_003179.2(SYP):c.868G>T (p.Gly290Trp)
Condition: Non-syndromic X-linked intellectual disability [RCV000286309]|not specified [RCV000238600]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 06/14/2016
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.868G>T
NG_012532.1:g.13694G>T
NC_000023.11:g.49191511C>A
NC_000023.10:g.49047968C>A
NP_003170.1:p.Gly290Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,191,511 - 49,191,511CLINVAR
GRCh37X49,047,968 - 49,047,968CLINVAR
Cytogenetic MapXXp11.23CLINVAR
Trait Synonyms: AllHighlyPenetrant; Mental retardation, nonsyndromic, X-linked; X-linked mental retardation; X-linked non-specific intellectual disability



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11525595
Created: 2016-08-09
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.