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Variant : CV339349 (NM_003179.2(SYP):c.*1239G>A) Homo sapiens

Symbol: CV339349
Name: NM_003179.2(SYP):c.*1239G>A
Condition: Non-syndromic X-linked intellectual disability [RCV000407639]
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.*1239G>A
NG_012532.1:g.17161G>A
NC_000023.11:g.49188048C>T
NC_000023.10:g.49044501C>T
NG_017135.1:g.3276G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,188,048 - 49,188,048CLINVAR
GRCh37X49,044,501 - 49,044,501CLINVAR
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: 11626138
Created: 2017-01-11
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.