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Variant : CV352900 (NM_003179.2(SYP):c.312C>T (p.Ala104=)) Homo sapiens

Symbol: CV352900
Name: NM_003179.2(SYP):c.312C>T (p.Ala104=)
Condition: Non-syndromic X-linked intellectual disability [RCV000279043]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: 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): NM_003179.2:c.312C>T
NG_012532.1:g.10928C>T
NC_000023.11:g.49194277G>A
NC_000023.10:g.49050734G>A
NP_003170.1:p.Ala104=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,194,277 - 49,194,277CLINVAR
GRCh37X49,050,734 - 49,050,734CLINVAR
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: 11627235
Created: 2017-01-11
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.