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Variant : CV348893 (NM_003179.2(SYP):c.*280C>T) Homo sapiens

Symbol: CV348893
Name: NM_003179.2(SYP):c.*280C>T
Condition: Non-syndromic X-linked intellectual disability [RCV000290068]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SYP  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_003179.2:c.*280C>T
NG_012532.1:g.16202C>T
NC_000023.11:g.49189007G>A
NC_000023.10:g.49045460G>A
NG_017135.1:g.2317C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,189,007 - 49,189,007CLINVAR
GRCh37X49,045,460 - 49,045,460CLINVAR
Cytogenetic MapXXp11.23CLINVAR
Trait Synonyms: 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: 11627829
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-09-06
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.