Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV352288 (NM_003179.2(SYP):c.*1055C>T) Homo sapiens

Symbol: CV352288
Name: NM_003179.2(SYP):c.*1055C>T
Condition: Non-syndromic X-linked intellectual disability [RCV000333446]
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.*1055C>T
NG_012532.1:g.16977C>T
NC_000023.11:g.49188232G>A
NC_000023.10:g.49044685G>A
NG_017135.1:g.3092C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,188,232 - 49,188,232CLINVAR
GRCh37X49,044,685 - 49,044,685CLINVAR
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: 11629779
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.