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Variant : CV195319 (NM_003179.2(SYP):c.687C>T (p.Ala229=)) Homo sapiens

Symbol: CV195319
Name: NM_003179.2(SYP):c.687C>T (p.Ala229=)
Condition: Non-syndromic X-linked intellectual disability [RCV000399334]|not provided [RCV000713738]|not specified [RCV000179421]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 01/25/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: SYP  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.49048149G>A
NM_003179.2:c.687C>T
NG_012532.1:g.13513C>T
NC_000023.11:g.49191692G>A
NP_003170.1:p.Ala229=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,191,692 - 49,191,692CLINVAR
GRCh37X49,048,149 - 49,048,149CLINVAR
Cytogenetic MapXXp11.23CLINVAR
Trait Synonyms: Mental retardation, nonsyndromic, X-linked; X-linked mental retardation; X-linked non-specific intellectual disability



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10052780
Created: 2015-07-14
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.