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

Variant : CV352898 (NM_003179.2(SYP):c.*1131G>A) Homo sapiens

Symbol: CV352898
Name: NM_003179.2(SYP):c.*1131G>A
Condition: Non-syndromic X-linked intellectual disability [RCV000368625]
Clinical Significance: likely 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.*1131G>A
NG_012532.1:g.17053G>A
NC_000023.11:g.49188156C>T
NC_000023.10:g.49044609C>T
NG_017135.1:g.3168G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,188,156 - 49,188,156CLINVAR
GRCh37X49,044,609 - 49,044,609CLINVAR
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: 11631105
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-09-06
Status: ACTIVE



NHLBI Logo

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