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Variant : CV339368 (NM_003179.2(SYP):c.54G>A (p.Gln18=)) Homo sapiens

Symbol: CV339368
Name: NM_003179.2(SYP):c.54G>A (p.Gln18=)
Condition: Non-syndromic X-linked intellectual disability [RCV000338719]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SYP   SYP-AS1  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_003179.2:c.54G>A
NG_012532.1:g.6187G>A
NC_000023.11:g.49199016C>T
NC_000023.10:g.49055475C>T
NP_003170.1:p.Gln18=
NR_046649.1:n.178C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,199,016 - 49,199,016CLINVAR
GRCh37X49,055,475 - 49,055,475CLINVAR
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: 11620604
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.